TPM3 gene related symptoms and diseases
All the information presented here about the TPM3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to TPM3 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Myopathy | Common - Between 50% and 80% cases |
| Motor delay | Common - Between 50% and 80% cases |
| Long face | Common - Between 50% and 80% cases |
| High palate | Common - Between 50% and 80% cases |
| Decreased fetal movement | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with TPM3 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Respiratory insufficiency due to muscle weakness
- EMG: myopathic abnormalities
- Nemaline bodies
- Generalized muscle weakness
- Waddling gait
- Facial palsy
- Generalized hypotonia
- Flexion contracture
And 145 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to TPM3 gene
Here you will find a list of rare diseases related to the TPM3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY
Alternate names
CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY Is also known as cftdm
Description
Congenital fiber type disproportion myopathy (CFTDM) is a rare type of myopathy characterized by hypotonia and mild to severe generalized muscle weakness present at birth or within the first year of life.
Most common symptoms of CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY
- Intellectual disability
- Short stature
- Failure to thrive
- Micrognathia
- Muscular hypotonia
More info about CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY
SOURCES: ORPHANET
MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD
Alternate names
MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD Is also known as cftdm, fiber-type disproportion myopathy, congenital
Description
Congenital fiber-type disproportion (CFTD) myopathy is a genetically heterogeneous disorder in which there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy. However, these findings are not specific and can be found in many different myopathic and neuropathic conditions. Clarke and North (2003) stated that the diagnosis of 'congenital fiber-type disproportion' as a disease entity is one of exclusion. They also suggested that the nonspecific histologic findings should be termed 'fiber size disproportion,' thus reserving the term CFTD for those cases in which no secondary cause can be found.
Most common symptoms of MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD
- Intellectual disability
- Global developmental delay
- Generalized hypotonia
- Scoliosis
- Growth delay
More info about MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD
SOURCES: OMIM
NEMALINE MYOPATHY 1; NEM1
Description
Nemaline myopathy-1 is a disorder characterized by muscle weakness, usually beginning in early childhood. The severity and pattern of muscle weakness varies, but most affected individuals show mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability. Most patients have respiratory insufficiency due to muscle weakness. Other common features include myopathic facies, high-arched palate, and scoliosis. Histologic findings on skeletal muscle biopsy are variable, even in patients with the same mutation. Muscle fibers can contain nemaline rod inclusions, or so-called subsarcolemmal 'cap' structures, as well as show overall fiber-type disproportion. It has been suggested that unknown modifying factors confer a tendency to one or another pattern of inclusions on skeletal muscle biopsy in those with TPM3 mutations (summary by Waddell et al., 2010 and Malfatti et al., 2013).For a discussion of genetic heterogeneity of nemaline myopathy, see {161800}.
Most common symptoms of NEMALINE MYOPATHY 1; NEM1
- Generalized hypotonia
- Scoliosis
- Muscle weakness
- Muscular hypotonia
- Flexion contracture
More info about NEMALINE MYOPATHY 1; NEM1
INFLAMMATORY MYOFIBROBLASTIC TUMOR
Description
Inflammatory myofibroblastic tumor is a rare neoplastic lesion of the submucosal stroma, which can develop in any organ, often occurring in the lung, mesentery, omentum and the retroperitoneal region. It is histologically heterogenous, composed of spindle-shaped cells, myofibroblasts and inflammatory cells. It is usually benign, however local invasion, recurrence, malignant transformation with vascular invasion and metastases may occur. The presentation is nonspecific and depends on the organ involved. Some patients may present with paraneoplastic syndrome (fever, malaise, weight loss, anemia, thrombocytosis) or symptoms related to compression of adjacent organs, such as bowel obstruction.
Most common symptoms of INFLAMMATORY MYOFIBROBLASTIC TUMOR
- Neoplasm
- Pain
- Fever
More info about INFLAMMATORY MYOFIBROBLASTIC TUMOR
SOURCES: ORPHANET
CHILDHOOD-ONSET NEMALINE MYOPATHY
Alternate names
CHILDHOOD-ONSET NEMALINE MYOPATHY Is also known as mild nemaline myopathy
Description
Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM; see this terms) characterized by distal muscle weakness, and sometimes slowness of muscle contraction.
Most common symptoms of CHILDHOOD-ONSET NEMALINE MYOPATHY
- Generalized hypotonia
- Scoliosis
- Hypertelorism
- Micrognathia
- Ptosis
More info about CHILDHOOD-ONSET NEMALINE MYOPATHY
SOURCES: ORPHANET
CAP MYOPATHY
Alternate names
CAP MYOPATHY Is also known as cap disease
Description
Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis.
Most common symptoms of CAP MYOPATHY
- Generalized hypotonia
- Muscle weakness
- High palate
- Motor delay
- Myopathy
More info about CAP MYOPATHY
INTERMEDIATE NEMALINE MYOPATHY
Description
Intermediate nemaline myopathy is a type of nemaline myopathy (NM; see this term) that shows features of typical NM (see this term) in neonates with a more severe progression.
Most common symptoms of INTERMEDIATE NEMALINE MYOPATHY
- Hypertelorism
- Low-set ears
- Flexion contracture
- Motor delay
- Skeletal muscle atrophy
More info about INTERMEDIATE NEMALINE MYOPATHY
SOURCES: ORPHANET
CONGENITAL GENERALIZED HYPERCONTRACTILE MUSCLE STIFFNESS SYNDROME
Search interest in TPM3
Potential gene panels for TPM3 gene
Congenital Myopathy Advanced Sequencing Evaluation Panel
United States.
By Athena Diagnostics Inc Congenital Myopathy Advanced Sequencing Evaluation that also includes the following genes: RYR1 BIN1 TNNT1 TPM2 TPM3 TTN ACTA1 CCDC78 SELENON TRIM32
More info about this panel United States.
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 United States.
Congenital Contractures Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Congenital Contractures Panel that also includes the following genes: SKI SLC18A3 TNNI2 TNNT3 TPM2 TPM3 UBA1 ZMPSTE24 ACTA1 ADGRG6
More info about this panel United States.
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 United States.
Congenital Muscular Myopathy Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Congenital Muscular Myopathy that also includes the following genes: RYR1 BIN1 TNNT1 TPM2 TPM3 ACTA1 SELENON CFL2 CNTN1 DNM2
More info about this panel United States.
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 United States.
Congenital Myopathy Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Congenital Myopathy Sequencing Panel that also includes the following genes: RYR1 BIN1 SCN4A TNNT1 TPM2 TPM3 TTN ACTA1 CCDC78 SELENON
More info about this panel United States.
Congenital Myopathy Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Congenital Myopathy Deletion/Duplication Panel that also includes the following genes: RYR1 BIN1 SCN4A TNNT1 TPM2 TPM3 TTN ACTA1 CCDC78 SELENON
More info about this panel United States.
Nemaline Myopathy Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Nemaline Myopathy Sequencing Panel that also includes the following genes: TNNT1 TPM2 TPM3 ACTA1 KLHL41 CFL2 KLHL40 KBTBD13 LMOD3 NEB
More info about this panel United States.
Congenital Myopathy with Fiber-Type Disproportion Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Congenital Myopathy with Fiber-Type Disproportion Sequencing Panel that also includes the following genes: RYR1 TPM2 TPM3 ACTA1 SELENON LMNA MYH7
More info about this panel United States.
Nemaline Myopathy 1 Panel
Switzerland.
By Human Genetics University Hospital Bern
This panel specifically test the TPM3 gene.
More info about this panel Switzerland.
ACTA1, MYH7, RYR1, SEPN1, TPM3 . NextGeneDx.Complete sequencing by NGS Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica ACTA1, MYH7, RYR1, SEPN1, TPM3 . NextGeneDx.Complete sequencing by NGS that also includes the following genes: RYR1 TPM3 ACTA1 SELENON MYH7
More info about this panel Spain.
TPM3. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the TPM3 gene.
More info about this panel Spain.
TPM3. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the TPM3 gene.
More info about this panel Spain.
Nemaline myopathy 1 (sequence analysis of TPM3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the TPM3 gene.
More info about this panel Portugal.
Congenital Myopathy Sequencing Panel Panel
United States.
By PreventionGenetics PreventionGenetics Congenital Myopathy Sequencing Panel that also includes the following genes: RYR1 BIN1 TNNT1 TPM2 TPM3 TTN ACTA1 CCDC78 MICU1 SELENON
More info about this panel United States.
Myopathy, Congenital via TPM3 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the TPM3 gene.
More info about this panel United States.
Nemaline Myopathy Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Nemaline Myopathy Sequencing Panel with CNV Detection that also includes the following genes: TNNT1 TPM2 TPM3 ACTA1 KLHL41 CFL2 KLHL40 KBTBD13 LMOD3 NEB
More info about this panel United States.
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 United States.
TPM3-Related Congenital Fiber-Type Disproportion Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the TPM3 gene.
More info about this panel Germany.
TPM3-Related Nemaline Myopathy Panel
Germany.
By MGZ Medical Genetics Center
This panel specifically test the TPM3 gene.
More info about this panel Germany.
Histological Structural Myopathy (Nemaline / Core / Centronuclear), Congenital Myopathy Panel
Germany.
By MGZ Medical Genetics Center Histological Structural Myopathy (Nemaline / Core / Centronuclear), Congenital Myopathy that also includes the following genes: RYR1 BIN1 TNNT1 TPM2 TPM3 ACTA1 CCDC78 SELENON CFL2 MTMR14
More info about this panel Germany.
Newborn: “Floppy Infant “ Panel
Germany.
By MGZ Medical Genetics Center Newborn: “Floppy Infant “ that also includes the following genes: RYR1 BIN1 SCN4A TCAP TNNT1 TPM2 TPM3 TTN UBA1 ACTA1
More info about this panel Germany.
Muscle Disease with Contractures and/or Rigid Spine Panel
Germany.
By MGZ Medical Genetics Center Muscle Disease with Contractures and/or Rigid Spine that also includes the following genes: RYR1 TNNT1 TPM2 TPM3 ACTA1 CAPN3 SELENON SYNE2 SYNE1 CFL2
More info about this panel Germany.
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 Germany.
Nemaline Panel Panel
United States.
By FirmaLab Nemaline Panel that also includes the following genes: TNNT1 TPM2 TPM3 ACTA1 CFL2 NEB
More info about this panel United States.
TPM3 Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the TPM3 gene.
More info about this panel Netherlands.
Nemaline myopathy panel Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht Nemaline myopathy panel that also includes the following genes: TNNT1 TPM2 TPM3 ACTA1 CFL2 KBTBD13 NEB
More info about this panel Netherlands.
Nemaline myopathy type 1 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the TPM3 gene.
More info about this panel Germany.
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 Germany.
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 Germany.
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 Estonia.
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 United States.
Invitae Nemaline Myopathy Panel Panel
United States.
By Invitae Invitae Nemaline Myopathy Panel that also includes the following genes: TNNT1 TPM2 TPM3 ACTA1 KLHL41 CFL2 MYPN KLHL40 KBTBD13 LMOD3
More info about this panel United States.
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 United States.
Invitae Congenital Myopathy Panel Panel
United States.
By Invitae Invitae Congenital Myopathy Panel that also includes the following genes: RYR1 BIN1 TNNT1 TPM2 TPM3 TTN ACTA1 CCDC78 SELENON KLHL41
More info about this panel United States.
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 United States.
Invitae Congenital Fiber-Type Disproportion Panel Panel
United States.
By Invitae Invitae Congenital Fiber-Type Disproportion Panel that also includes the following genes: RYR1 TPM2 TPM3 ACTA1 SELENON LMNA MYH7
More info about this panel United States.
Congenital myopathy with fiber-type disproportion: TPM3 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the TPM3 gene.
More info about this panel Spain.
Nemaline myopathy 1: TPM3 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the TPM3 gene.
More info about this panel Spain.
NEMALINE MYOPATHY Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases NEMALINE MYOPATHY that also includes the following genes: TNNT1 TPM2 TPM3 ACTA1 CFL2 MTM1 NEB
More info about this panel Spain.
CONGENITAL MYOPATHY Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases CONGENITAL MYOPATHY that also includes the following genes: RYR1 TPM2 TPM3 ACTA1 SELENON MYH7
More info about this panel Spain.
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 Spain.
Nemaline Myopathy, TPM3-Related: TPM3 Full Gene Sequencing Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the TPM3 gene.
More info about this panel United States.
Nemaline Myopathy, TPM3-Related: TPM3 Gene Deletion/Duplication Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the TPM3 gene.
More info about this panel United States.
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 United States.
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 United States.
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 United States.
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 United States.
Nemaline Myopathy NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Nemaline Myopathy NGS Panel that also includes the following genes: TNNT1 TPM2 TPM3 ACTA1 CFL2 KBTBD13 NEB
More info about this panel United States.
Congenital Fiber Type Disproportion NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Congenital Fiber Type Disproportion NGS Panel that also includes the following genes: RYR1 TPM2 TPM3 ACTA1 SELENON
More info about this panel United States.
TPM3 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the TPM3 gene.
More info about this panel United States.
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 Finland.
Nemaline Myopathy Panel Panel
Finland.
By Blueprint Genetics Nemaline Myopathy Panel that also includes the following genes: TNNT1 TPM2 TPM3 ACTA1 KLHL41 CFL2 KLHL40 KBTBD13 LMOD3 MTM1
More info about this panel Finland.
Arthrogryposes Panel Panel
Finland.
By Blueprint Genetics Arthrogryposes Panel that also includes the following genes: BIN1 SCO2 TGFB3 TK2 TNNI2 TNNT1 TNNT3 TPM2 TPM3 VPS33B
More info about this panel Finland.
Congenital fiber-type disproportion myopathy Panel
Spain.
By Bioarray
This panel specifically test the TPM3 gene.
More info about this panel Spain.
Nemaline myopathy type 1 Panel
Spain.
By Bioarray
This panel specifically test the TPM3 gene.
More info about this panel Spain.
Nemaline Congenital Myopathy NGS and Deletion/Duplication Panel Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Nemaline Congenital Myopathy NGS and Deletion/Duplication Panel that also includes the following genes: TNNT1 TPM2 TPM3 ACTA1 CFL2 KBTBD13 NEB
More info about this panel United States.
TPM3 Gene Sequencing and Deletion/Duplication Analysis Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the TPM3 gene.
More info about this panel United States.
Caris MI TumorSeek 592-Gene NGS Panel Panel
United States.
By Caris Life Sciences Caris MI TumorSeek 592-Gene NGS Panel that also includes the following genes: BCL6 BCL7A BCL9 BCR ROS1 RPL10 RPL22 RPL5 RPN1 RUNX1
More info about this panel United States.
CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY Panel
Spain.
By Laboratorio de Genetica Clinica SL CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY that also includes the following genes: RYR1 TPM2 TPM3 ACTA1 SELENON MYH7
More info about this panel Spain.
NEMALINE MYOPATHY NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL NEMALINE MYOPATHY NGS PANEL that also includes the following genes: TNNT1 TPM2 TPM3 ACTA1 KLHL41 CFL2 KLHL40 KBTBD13 LMOD3 NEB
More info about this panel Spain.
NEMALINE MYOPATHY Panel
Spain.
By Laboratorio de Genetica Clinica SL NEMALINE MYOPATHY that also includes the following genes: TNNT1 TPM2 TPM3 ACTA1 CFL2 NEB
More info about this panel Spain.
Nemaline Myopathy, Sequencing TPM3 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the TPM3 gene.
More info about this panel Spain.
Congenital Myopathy , Panel Massive Sequencing (NGS) 6 Genes Panel
Spain.
By Reference Laboratory Genetics Congenital Myopathy , Panel Massive Sequencing (NGS) 6 Genes that also includes the following genes: RYR1 TPM2 TPM3 ACTA1 SELENON MYH7
More info about this panel Spain.
Nemaline Myopathy, Panel Massive Sequencing (NGS) 8 Genes Panel
Spain.
By Reference Laboratory Genetics Nemaline Myopathy, Panel Massive Sequencing (NGS) 8 Genes that also includes the following genes: TNNT1 TPM2 TPM3 ACTA1 CFL2 MTM1 NEB
More info about this panel Spain.
Congenital Fiber-Type Disproportion Myopathy , Panel Massive Sequencing (NGS) 6 Genes Panel
Spain.
By Reference Laboratory Genetics Congenital Fiber-Type Disproportion Myopathy , Panel Massive Sequencing (NGS) 6 Genes that also includes the following genes: RYR1 TPM2 TPM3 ACTA1 SELENON MYH7
More info about this panel Spain.
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
More info about this panel Spain.
Congenital Central Core Myopathy , Panel Massive Sequencing (NGS) RYR1, MYH7, SELENON, TPM3 Genes Panel
Spain.
By Reference Laboratory Genetics Congenital Central Core Myopathy , Panel Massive Sequencing (NGS) RYR1, MYH7, SELENON, TPM3 Genes that also includes the following genes: RYR1 TPM3 SELENON MYH7
More info about this panel Spain.
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