MYOT gene related symptoms and diseases

All the information presented here about the MYOT gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to MYOT gene

Symptoms // Phenotype % Cases
Dysphagia Very Common - Between 80% and 100% cases
Elevated serum creatine phosphokinase Very Common - Between 80% and 100% cases
Proximal muscle weakness Very Common - Between 80% and 100% cases
Distal muscle weakness Very Common - Between 80% and 100% cases
Muscle weakness Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with MYOT gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Centrally nucleated skeletal muscle fibers
  • Muscular dystrophy
  • Respiratory insufficiency
  • Myofibrillar myopathy
  • Absent Achilles reflex
  • Autophagic vacuoles
  • Myopathy
  • Not very common - Between 30% and 50% cases

  • Increased endomysial connective tissue

And 44 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

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Rare diseases associated to MYOT gene

Here you will find a list of rare diseases related to the MYOT. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


SPHEROID BODY MYOPATHY


Description

Spheroid body myopathy is a rare form of myofibrillar myopathy characterized by predominantly proximal muscle weakness (that could be either non- or slowly progressive), associated with spheroid body inclusions (composed of myofilamentous material within individual muscle fibers) in skeletal muscle biopsy. Presentation is varied and may range from asymptomatic to severe muscle weakness that manifests with absent Achilles reflexes, gait abnormality and/or other motor incapacitations.

Most common symptoms of SPHEROID BODY MYOPATHY

  • Muscle weakness
  • Tremor
  • Dysphagia
  • Myopathy
  • Abnormality of metabolism/homeostasis


More info about SPHEROID BODY MYOPATHY

SOURCES: OMIM ORPHANET MESH

DISTAL MYOTILINOPATHY


Alternate names

DISTAL MYOTILINOPATHY Is also known as muscular dystrophy, limb-girdle, type 1, formerly, lgmd1, formerly, lgmd1a, formerly, myopathy, myofibrillar, myotilin-related, muscular dystrophy, limb-girdle, type 1a, formerly, myotilinopathy

Description

Distal myotilinopathy is a rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years.

Most common symptoms of DISTAL MYOTILINOPATHY

  • Muscle weakness
  • Flexion contracture
  • Peripheral neuropathy
  • Dysarthria
  • Dysphagia


More info about DISTAL MYOTILINOPATHY

SOURCES: MESH ORPHANET OMIM

AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1A


Alternate names

AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1A Is also known as limb-girdle muscular dystrophy due to myotilin deficiency, lgmd1a

Description

Autosomal dominant limb-girdle muscular dystrophy type 1A (LGMD1A) is a subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed.

Most common symptoms of AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1A

  • Dysphagia
  • Respiratory insufficiency
  • Elevated serum creatine phosphokinase
  • Respiratory failure
  • Proximal muscle weakness


More info about AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1A

SOURCES: MESH ORPHANET


Potential gene panels for MYOT gene

Distal Myopathy Advanced Sequencing Evaluation Panel

United States.

By Athena Diagnostics Inc Distal Myopathy Advanced Sequencing Evaluation that also includes the following genes: TIA1 MYOT TTN VCP CAV3 LDB3 KLHL9 GNE CRYAB ANO5

More info about this panel

Myofibrillar Myopathy Advanced Sequencing Evaluation Panel

United States.

By Athena Diagnostics Inc Myofibrillar Myopathy Advanced Sequencing Evaluation that also includes the following genes: MYOT TTN LDB3 SELENON CRYAB DES FHL1 FLNC BAG3

More info about this panel

Limb Girdle Muscular Dystrophy Advanced Evaluation Panel

United States.

By Athena Diagnostics Inc Limb Girdle Muscular Dystrophy Advanced Evaluation that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3

More info about this panel

Muscular Dystrophy Advanced Evaluation Panel

United States.

By Athena Diagnostics Inc Muscular Dystrophy Advanced Evaluation that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CCDC78 CAPN3 DNAJB6

More info about this panel

Neuromuscular Disorders Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Neuromuscular Disorders Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG SLC25A4 SUCLA2

More info about this panel

Comprehensive Neuromuscular Panel Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Comprehensive Neuromuscular Panel that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP

More info about this panel

Limb-Girdle Muscular Dystrophy Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Limb-Girdle Muscular Dystrophy that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN VCP CAPN3 CAV3

More info about this panel

Neuromuscular Disorders Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Neuromuscular Disorders Sequencing Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SNAP25 STIM1 SYT2

More info about this panel

Limb-Girdle Muscular Dystrophy Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Limb-Girdle Muscular Dystrophy Sequencing Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3

More info about this panel

Limb-Girdle Muscular Dystrophy Deletion/Duplication Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Limb-Girdle Muscular Dystrophy Deletion/Duplication Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3

More info about this panel

Myotilinopathy Panel

Switzerland.

By Human Genetics University Hospital Bern

This panel specifically test the MYOT gene.

More info about this panel

Cardiomyopathy and Arrhythmia Panel, Sequencing and Deletion/Duplication Panel

United States.

By ARUP Laboratories, Molecular Genetics and Genomics Cardiomyopathy and Arrhythmia Panel, Sequencing and Deletion/Duplication that also includes the following genes: RYR2 SCN1B SCN2B SCN4B SCN5A SCO2 SGCA SGCB SGCD SGCG

More info about this panel

MYOT. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the MYOT gene.

More info about this panel

TTID. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the MYOT gene.

More info about this panel

MYOT. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the MYOT gene.

More info about this panel

Limb-girdle muscular dystrophies (NGS panel for 26 genes) Panel

Portugal.

By CGC Genetics Limb-girdle muscular dystrophies (NGS panel for 26 genes) that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3

More info about this panel

Limb-girdle muscular dystrophy type 1A (LGMD1A, sequence analysis of MYOT gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the MYOT gene.

More info about this panel

Myotilinopathy (sequence analysis of MYOT gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the MYOT gene.

More info about this panel

Limb-girdle muscular dystrophy type 1A (LGMD1A, deletion/duplication analysis of MYOT gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the MYOT gene.

More info about this panel

Limb-girdle muscular dystrophy type 1A (LGMD1A, deletion/duplication analysis of MYOT gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the MYOT gene.

More info about this panel

Distal Hereditary Myopathy Sequencing Panel Panel

United States.

By PreventionGenetics PreventionGenetics Distal Hereditary Myopathy Sequencing Panel that also includes the following genes: SQSTM1 TCAP TIA1 MYOT TTN VCP DNAJB6 CAV3 LDB3 KLHL9

More info about this panel

Myotilinopathy via MYOT Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the MYOT gene.

More info about this panel

Limb-Girdle Muscular Dystrophy (LGMD) Sequencing Panel Panel

United States.

By PreventionGenetics PreventionGenetics Limb-Girdle Muscular Dystrophy (LGMD) Sequencing Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN VCP CAPN3 DNAJB6

More info about this panel

Comprehensive Neuromuscular Sequencing Panel Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Neuromuscular Sequencing Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SNAP25 SQSTM1 STIM1

More info about this panel

Distal Myopathy NGS panel Panel

United States.

By Connective Tissue Gene Tests Distal Myopathy NGS panel that also includes the following genes: SQSTM1 TCAP TIA1 MYOT TTN VCP DNAJB6 CAV3 LDB3 GNE

More info about this panel

Distal Myopathy Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Distal Myopathy Comprehensive panel that also includes the following genes: SQSTM1 TCAP TIA1 MYOT TTN VCP DNAJB6 CAV3 LDB3 GNE

More info about this panel

Distal Myopathy Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Distal Myopathy Deletion / Duplication panel that also includes the following genes: SQSTM1 TCAP TIA1 MYOT TTN VCP DNAJB6 CAV3 LDB3 GNE

More info about this panel

Myofibrillar myopathy and related disorders NGS panel Panel

United States.

By Connective Tissue Gene Tests Myofibrillar myopathy and related disorders NGS panel that also includes the following genes: MYOT ACTA1 DNAJB6 LDB3 CRYAB PYROXD1 KY DES FHL1 FLNC

More info about this panel

Limb girdle muscular dystrophy Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Limb girdle muscular dystrophy Comprehensive panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3

More info about this panel

Myofibrillar myopathy and related disorders Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Myofibrillar myopathy and related disorders Comprehensive panel that also includes the following genes: MYOT ACTA1 DNAJB6 LDB3 CRYAB PYROXD1 KY DES FHL1 FLNC

More info about this panel

Limb girdle muscular dystrophy Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Limb girdle muscular dystrophy Deletion / Duplication panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3

More info about this panel

Limb girdle muscular dystrophy NGS panel Panel

United States.

By Connective Tissue Gene Tests Limb girdle muscular dystrophy NGS panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3

More info about this panel

Myofibrillar myopathy and related disorders Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Myofibrillar myopathy and related disorders Deletion / Duplication panel that also includes the following genes: MYOT ACTA1 DNAJB6 LDB3 CRYAB PYROXD1 KY DES FHL1 FLNC

More info about this panel

Histological Myofibrillar Myopathy Panel

Germany.

By MGZ Medical Genetics Center Histological Myofibrillar Myopathy that also includes the following genes: MYOT TTN VCP LDB3 GNE CRYAB DES FHL1 FLNC LMNA

More info about this panel

Muscular Dystrophy: Limb Girdle - autosomal dominant Panel

Germany.

By MGZ Medical Genetics Center Muscular Dystrophy: Limb Girdle - autosomal dominant that also includes the following genes: MYOT DNAJB6 CAV3 DES LMNA

More info about this panel

Heart Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Heart Diseases - panels that also includes the following genes: RIT1 RRAS RYR2 SCN4B SCN5A SCO2 SDHA BMPR2 SGCA SGCB

More info about this panel

Muscle Disease with Distal Myopathy Panel

Germany.

By MGZ Medical Genetics Center Muscle Disease with Distal Myopathy that also includes the following genes: TCAP TIA1 MYOT TTN VCP CCDC78 CAPN3 CAV3 LDB3 BICD2

More info about this panel

Muscle Weakness (Myopathy, Muscular Dystrophy) Panel

Germany.

By MGZ Medical Genetics Center Muscle Weakness (Myopathy, Muscular Dystrophy) that also includes the following genes: RYR1 BIN1 SCN4A SCO2 SDHA SGCA SGCB SGCD SGCG SLC22A5

More info about this panel

Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR) Panel

Germany.

By MGZ Medical Genetics Center Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR) that also includes the following genes: RYR1 SCN4A SGCA SGCB SGCD SGCG SLC22A5 STIM1 TCAP TIA1

More info about this panel

MYOT Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the MYOT gene.

More info about this panel

Myotilinopathy Testing Panel

United States.

By FirmaLab

This panel specifically test the MYOT gene.

More info about this panel

Distal Myopathy Panel Panel

United States.

By FirmaLab Distal Myopathy Panel that also includes the following genes: MYOT TTN CAV3 LDB3 GNE ANO5 DNM2 DYSF MATR3 MYH7

More info about this panel

Myofibrillar Panel Panel

United States.

By FirmaLab Myofibrillar Panel that also includes the following genes: MYOT LDB3 CRYAB DES FLNC BAG3

More info about this panel

Cardiomyopathy panel Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht Cardiomyopathy panel that also includes the following genes: RYR2 SCN5A SGCD TAZ TCAP TMPO TNNC1 TNNI3 TNNT2 TPM1

More info about this panel

Myofibrillar myopathy panel Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht Myofibrillar myopathy panel that also includes the following genes: MYOT LDB3 CRYAB DES FHL1 FLNC BAG3

More info about this panel

Myofibrillar myopathy panel Panel

Germany.

By Centogene AG - the Rare Disease Company Myofibrillar myopathy panel that also includes the following genes: MYOT DNAJB6 LDB3 CRYAB DES FHL1 FLNC BAG3

More info about this panel

Mucopolysaccharidosis panel Panel

Germany.

By Centogene AG - the Rare Disease Company Mucopolysaccharidosis panel that also includes the following genes: SGSH MYOT LDB3 HGSNAT GALNS GNS GUSB HYAL1 IDS IDUA

More info about this panel

Myotilinopathy Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MYOT gene.

More info about this panel

Spheroid body myopathy Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MYOT gene.

More info about this panel

Limb-girdle muscular dystrophy panel Panel

Germany.

By Centogene AG - the Rare Disease Company Limb-girdle muscular dystrophy panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

Limb-girdle muscular dystrophy, autosomal dominant type 1A Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MYOT gene.

More info about this panel

Congenital and Distal Myopathies Panel Panel

Germany.

By CeGaT GmbH Congenital and Distal Myopathies Panel that also includes the following genes: RYR1 BIN1 STIM1 SUCLA2 TWNK TIA1 TK2 TNNT1 TPM2 TPM3

More info about this panel

Limb-Girdle Muscular Dystrophies Panel Panel

Germany.

By CeGaT GmbH Limb-Girdle Muscular Dystrophies Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3

More info about this panel

Limb-Girdle Muscular Dystrophy type 1 Panel

Poland.

By Laboratory of Human Genetics GENOMED Health Care Center Limb-Girdle Muscular Dystrophy type 1 that also includes the following genes: MYOT DNAJB6 CAV3 TNPO3 DES HNRNPDL LMNA

More info about this panel

Limb girdle muscular dystrophy 1A Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner

This panel specifically test the MYOT gene.

More info about this panel

Limb girdle muscular dystrophy-Panel Panel

Germany.

By MVZ Dortmund Dr. Eberhard & Partner Limb girdle muscular dystrophy-Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT CAPN3 DNAJB6 CAV3 TRIM32

More info about this panel

Congenital Myopathy and Distal Myopathy NGS panel Panel

Estonia.

By Asper Biogene Asper Biogene LLC Congenital Myopathy and Distal Myopathy NGS panel that also includes the following genes: RYR1 SQSTM1 TIA1 TNNT1 TPM2 TPM3 MYOT TTN VCP ACTA1

More info about this panel

Limb-Girdle Muscular Dystrophy Panel

Estonia.

By Asper Biogene Asper Biogene LLC Limb-Girdle Muscular Dystrophy that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3

More info about this panel

Inherited Cardiovascular Diseases and Sudden Death Panel Panel

Spain.

By Health in Code Inherited Cardiovascular Diseases and Sudden Death Panel that also includes the following genes: MRPL3 RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A BMPR1B BMPR2 SGCA

More info about this panel

Dilated Cardiomyopathy Panel Panel

Spain.

By Health in Code Dilated Cardiomyopathy Panel that also includes the following genes: RYR2 SCN5A SGCA SGCB SGCD SLC22A5 BRAF TAZ TBX20 TCAP

More info about this panel

Skeletal Myopathy Panel Panel

Spain.

By Health in Code Skeletal Myopathy Panel that also includes the following genes: SGCA SGCB SGCD SLC22A5 SLC25A4 SURF1 TAZ TCAP TNNI3 MYOT

More info about this panel

Cardiomyopathies Panel Panel

Spain.

By Health in Code Cardiomyopathies Panel that also includes the following genes: MRPL3 RYR2 SCN5A SGCA SGCB SGCD SLC22A5 BRAF SLC25A4 SOS1

More info about this panel

Cardiovascular Diseases_General Panel Panel

Spain.

By Health in Code Cardiovascular Diseases_General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR1 RYR2 SAR1B BLK SCN10A SCN1B SCN2B

More info about this panel

Skeletal myopathy Panel Panel

Spain.

By Health in Code Skeletal myopathy Panel that also includes the following genes: SCO2 SDHA SGCA SGCB SGCD SLC22A5 SLC25A3 SLC25A4 SURF1 TAZ

More info about this panel

Arrhythmia General Panel Panel

Spain.

By Health in Code Arrhythmia General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN10A SCN1B SCN2B SCN4B SCN5A SCO2

More info about this panel

Cardiomyopathies General Panel Panel

Spain.

By Health in Code Cardiomyopathies General Panel that also includes the following genes: RIT1 MRPL3 RRAS RYR2 SCN5A SCO2 SDHA SGCA SGCB SGCD

More info about this panel

Muscular dystrophy, limb-girdle 1A Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the MYOT gene.

More info about this panel

Myotilinopathy Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the MYOT gene.

More info about this panel

Myopathy, spheroid body Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the MYOT gene.

More info about this panel

Muscular dystrophy, limb-girdle 1A Panel

Slovakia.

By MedGene

This panel specifically test the MYOT gene.

More info about this panel

Myopathy, spheroid body Panel

Slovakia.

By MedGene

This panel specifically test the MYOT gene.

More info about this panel

Myotilinopathy Panel

Slovakia.

By MedGene

This panel specifically test the MYOT gene.

More info about this panel

Invitae Comprehensive Neuromuscular Disorders Panel Panel

United States.

By Invitae Invitae Comprehensive Neuromuscular Disorders Panel that also includes the following genes: RYR1 BIN1 SCN4A SGCA SGCB SGCD SGCG SMN1 SMN2 SQSTM1

More info about this panel

Invitae Myofibrillar Myopathy Panel Panel

United States.

By Invitae Invitae Myofibrillar Myopathy Panel that also includes the following genes: MYOT DNAJB6 LDB3 CRYAB DES FHL1 FLNC BAG3

More info about this panel

Invitae Comprehensive Muscular Dystrophy Panel Panel

United States.

By Invitae Invitae Comprehensive Muscular Dystrophy Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN RXYLT1 CAPN3 DNAJB6

More info about this panel

Invitae Distal Myopathy Panel Panel

United States.

By Invitae Invitae Distal Myopathy Panel that also includes the following genes: SQSTM1 TIA1 MYOT TTN VCP DNAJB6 CAV3 LDB3 GNE CRYAB

More info about this panel

Invitae Cardiomyopathy and Skeletal Muscle Disease Panel Panel

United States.

By Invitae Invitae Cardiomyopathy and Skeletal Muscle Disease Panel that also includes the following genes: RYR1 RYR2 BIN1 SCN5A SGCA SGCB SGCD SGCG SLC22A5 SQSTM1

More info about this panel

Invitae Comprehensive Myopathy Panel Panel

United States.

By Invitae Invitae Comprehensive Myopathy Panel that also includes the following genes: RYR1 BIN1 SCN4A SQSTM1 STIM1 TIA1 TNNT1 TPM2 TPM3 MYOT

More info about this panel

Invitae Limb-Girdle Muscular Dystrophy Panel Panel

United States.

By Invitae Invitae Limb-Girdle Muscular Dystrophy Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3

More info about this panel

Limb-girdle muscular dystrophy type 1A (LGMD 1A): TTID(MYOT) gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the MYOT gene.

More info about this panel

LIMB-GIRDLE MUSCULAR DYSTROPHY Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases LIMB-GIRDLE MUSCULAR DYSTROPHY that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3

More info about this panel

LIMB-GIRDLE MUSCULAR DYSTROPHY, A.D. Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases LIMB-GIRDLE MUSCULAR DYSTROPHY, A.D. that also includes the following genes: MYOT DNAJB6 CAV3 DES LMNA

More info about this panel

Myofibrillar myopathy Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Myofibrillar myopathy that also includes the following genes: TPM3 MYOT TTN DNAJB6 LDB3 TRIM32 CRYAB DES FHL1 FLNC

More info about this panel

Limb-Girdle Muscular Dystrophy Type 1A: TTID Full Gene Sequencing Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the MYOT gene.

More info about this panel

Limb-Girdle Muscular Dystrophy Type 1A: TTID Gene Deletion/Duplication Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the MYOT gene.

More info about this panel

Neuromuscular Disorders: Gene Sequencing and Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Neuromuscular Disorders: Gene Sequencing and Deletion/Duplication Panel that also includes the following genes: RYR1 RYR2 SGCA SGCB SGCD SGCE SGCG TCAP TNNI2 TNNT1

More info about this panel

Expanded Neuromuscular Disorders: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Expanded Neuromuscular Disorders: Sequencing Panel that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP

More info about this panel

Limb-Girdle Muscular Dystrophy: Sequencing and Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Limb-Girdle Muscular Dystrophy: Sequencing and Deletion/Duplication Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN VCP CAPN3 CAV3

More info about this panel

Expanded Neuromuscular Disorders: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Expanded Neuromuscular Disorders: Deletion/Duplication Panel that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP

More info about this panel

Muscular Dystrophies NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Muscular Dystrophies NGS Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN MMEL1 CAPN3 DNAJB6

More info about this panel

Mucopolysaccharidosis NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Mucopolysaccharidosis NGS Panel that also includes the following genes: SGSH MYOT LDB3 HGSNAT GALNS GNS GUSB IDS IDUA ARSB

More info about this panel

Neuromuscular NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Neuromuscular NGS Panel that also includes the following genes: RYR1 RYR2 SGCA SGCB SGCD SGCE SGCG TCAP TNNI2 TNNT1

More info about this panel

Limb-Girdle Muscular Dystrophy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Limb-Girdle Muscular Dystrophy NGS Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3

More info about this panel

Myofibrillar Myopathy NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Myofibrillar Myopathy NGS Panel that also includes the following genes: MYOT DNAJB6 LDB3 CRYAB DES FHL1 FLNC BAG3

More info about this panel

MYOT Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MYOT gene.

More info about this panel

Cardiomyopathy Panel Panel

Finland.

By Blueprint Genetics Cardiomyopathy Panel that also includes the following genes: RIT1 RRAS RYR2 SCN5A SCNN1B SCNN1G SCO2 SDHA SGCA SGCB

More info about this panel

Lysosomal Disorders and Mucopolysaccharidosis Panel Panel

Finland.

By Blueprint Genetics Lysosomal Disorders and Mucopolysaccharidosis Panel that also includes the following genes: SGSH SLC17A5 SLC25A15 SMPD1 BTD SUOX TCF4 MYOT MCOLN1 NPC2

More info about this panel

LGMD and Congenital Muscular Dystrophy Panel Panel

Finland.

By Blueprint Genetics LGMD and Congenital Muscular Dystrophy Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3

More info about this panel

Comprehensive Muscular Dystrophy / Myopathy Panel Panel

Finland.

By Blueprint Genetics Comprehensive Muscular Dystrophy / Myopathy Panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP TNNT1 TPM2 TPM3 MYOT TTN

More info about this panel

Charcot-Marie-Tooth Neuropathy Panel Panel

Finland.

By Blueprint Genetics Charcot-Marie-Tooth Neuropathy Panel that also includes the following genes: SACS SBF1 SCN11A SCN9A DST SLC12A6 SPG11 ATL1 SPTLC1 SPTLC2

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Comprehensive Cardiology Panel Panel

Finland.

By Blueprint Genetics Comprehensive Cardiology Panel that also includes the following genes: RIT1 RRAS RYR2 SCN10A SCN1B SCN5A SCNN1B SCNN1G SCO2 SDHA

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Comprehensive Metabolism Panel Panel

Finland.

By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3

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Myotilin-related myofibrillar myopathy without spheroid body Panel

Spain.

By Bioarray

This panel specifically test the MYOT gene.

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Autosomal dominant limb-girdle muscular dystrophy type 1A Panel

Spain.

By Bioarray

This panel specifically test the MYOT gene.

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MYOFIBRILLAR MYOPATHY NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL MYOFIBRILLAR MYOPATHY NGS PANEL that also includes the following genes: MYOT DNAJB6 LDB3 CRYAB DES FHL1 FLNC BAG3

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MUSCULAR DYSTROPHY, LIMB-GIRDLE TYPE 1A (AUT. DOMINANT) (MYOTILIN DEFICIENCY) Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the MYOT gene.

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MYOFIBRILLAR MYOPATHY Panel

Spain.

By Laboratorio de Genetica Clinica SL MYOFIBRILLAR MYOPATHY that also includes the following genes: MYOT DNAJB6 LDB3 CRYAB DES FHL1 FLNC BAG3

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MUSCULAR DYSTROPHY, LIMB-GIRDLE:NGS NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL MUSCULAR DYSTROPHY, LIMB-GIRDLE:NGS NGS PANEL that also includes the following genes: SGCA SGCB SGCD SGCG BVES TCAP MYOT TTN CAPN3 DNAJB6

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Limb-girdle muscular dystrophy panel Panel

Canada.

By LifeLabs Genetics Limb-girdle muscular dystrophy panel that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3

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Limb-Girdle Muscular Dystrophy Type 1A, Sequencing MYOT Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the MYOT gene.

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Autosomal Dominant Limb-Girdle Muscular Dystrophy, Panel Massive Sequencing (NGS) 3 Genes Panel

Spain.

By Reference Laboratory Genetics Autosomal Dominant Limb-Girdle Muscular Dystrophy, Panel Massive Sequencing (NGS) 3 Genes that also includes the following genes: MYOT CAV3 LMNA

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Limb-Girdle Muscular Distrophy , Panel Massive Sequencing (NGS) 22 Genes Panel

Spain.

By Reference Laboratory Genetics Limb-Girdle Muscular Distrophy , Panel Massive Sequencing (NGS) 22 Genes that also includes the following genes: SGCA SGCB SGCD SGCG TCAP MYOT TTN CAPN3 DNAJB6 CAV3

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Myofibrillar Myopathy, Panel Massive Sequencing (NGS) 8 Genes Panel

Spain.

By Reference Laboratory Genetics Myofibrillar Myopathy, Panel Massive Sequencing (NGS) 8 Genes that also includes the following genes: MYOT DNAJB6 LDB3 CRYAB DES FHL1 FLNC BAG3

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Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes Panel

Spain.

By Reference Laboratory Genetics Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes that also includes the following genes: RYR1 RYR2 BIN1 SCN4A SGCA SGCB SGCD SGCE SGCG TCAP

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