MTM1 gene related symptoms and diseases

All the information presented here about the MTM1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to MTM1 gene

Symptoms // Phenotype % Cases
Myopathy Very Common - Between 80% and 100% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Neonatal respiratory distress Uncommon - Between 30% and 50% cases
Myotonia Uncommon - Between 30% and 50% cases
Ophthalmoparesis Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with MTM1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Pyloric stenosis
  • Cholelithiasis
  • Atrioventricular block
  • Hemangioma
  • Sleep apnea
  • Severe muscular hypotonia
  • External ophthalmoplegia
  • Accelerated skeletal maturation

And 74 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to MTM1 gene

Here you will find a list of rare diseases related to the MTM1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


X-LINKED CENTRONUCLEAR MYOPATHY


Alternate names

X-LINKED CENTRONUCLEAR MYOPATHY Is also known as x-linked myotubular myopathy, myotubular myopathy, x-linked, myotubular myopathy 1, xlmtm, mtmx, xlcnm, mtm1

Description

X-linked myotubular myopathy (XLMTM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

Most common symptoms of X-LINKED CENTRONUCLEAR MYOPATHY

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


More info about X-LINKED CENTRONUCLEAR MYOPATHY

SOURCES: OMIM ORPHANET

X-LINKED MYOTUBULAR MYOPATHY-ABNORMAL GENITALIA SYNDROME


Alternate names

X-LINKED MYOTUBULAR MYOPATHY-ABNORMAL GENITALIA SYNDROME Is also known as xq28 contiguous gene deletion syndrome

Description

X-linked myotubular myopathy-abnormal genitalia syndrome is a rare chromosomal anomaly, partial deletion of the long arm of chromosome X, characterized by a combination of clinical manifestations of X-linked myotubular myopathy and a 46,XY disorder of sex development. Patients present with severe form of congenital myopathy and abnormal male genitalia.

Most common symptoms of X-LINKED MYOTUBULAR MYOPATHY-ABNORMAL GENITALIA SYNDROME

  • Myopathy
  • Hypospadias
  • Micropenis
  • Bifid scrotum


More info about X-LINKED MYOTUBULAR MYOPATHY-ABNORMAL GENITALIA SYNDROME

SOURCES: MESH OMIM ORPHANET


Potential gene panels for MTM1 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

NGS XLID Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS XLID Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1

More info about this panel

Myotubular Myopathy, X-linked Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center

This panel specifically test the MTM1 gene.

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

X-Linked Centronuclear Myopathy Panel

United States.

By Clinical Molecular Genetics Laboratory Johns Hopkins All Children's Hospital

This panel specifically test the MTM1 gene.

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

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

MTM1 sequencing Panel

United States.

By Genetic Services Laboratory University of Chicago

This panel specifically test the MTM1 gene.

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

MTM1 deletion/duplication analysis Panel

United States.

By Genetic Services Laboratory University of Chicago

This panel specifically test the MTM1 gene.

More info about this panel

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

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

Centronuclear Myopathy Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Centronuclear Myopathy Sequencing Panel that also includes the following genes: RYR1 BIN1 CCDC78 SPEG DNM2 MTM1 MYF6

More info about this panel

MTM1. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the MTM1 gene.

More info about this panel

X-Linked Centronuclear Myopathy (sequence analysis of MTM1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the MTM1 gene.

More info about this panel

Congenital myopathy (NGS panel of 19 genes) Panel

Portugal.

By CGC Genetics Congenital myopathy (NGS panel of 19 genes) that also includes the following genes: RYR1 BIN1 TNNT1 TPM2 ACTA1 CCDC78 SELENON CFL2 CNTN1 MAMLD1

More info about this panel

Congenital myopathy (NGS panel of 19 genes) Panel

Portugal.

By CGC Genetics Congenital myopathy (NGS panel of 19 genes) that also includes the following genes: RYR1 BIN1 TNNT1 TPM2 ACTA1 CCDC78 SELENON CFL2 CNTN1 MAMLD1

More info about this panel

X-Linked Centronuclear Myopathy Panel

United Kingdom.

By Mersey Regional Genetics Laboratories Liverpool Women's Hospital

This panel specifically test the MTM1 gene.

More info about this panel

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

Centronuclear Myopathy, X-Linked via MTM1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the MTM1 gene.

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

X-Linked Centronuclear Myopathy Panel

Germany.

By MGZ Medical Genetics Center

This panel specifically test the MTM1 gene.

More info about this panel

Neurogenetic Disorders - panels Panel

Germany.

By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2

More info about this panel

Mental Retardation and Dysmorphology - panels Panel

Germany.

By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel

Syndromal Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2

More info about this panel

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

X-Linked Mental Retardation Panel

Germany.

By MGZ Medical Genetics Center X-Linked Mental Retardation that also includes the following genes: RPL10 RPS6KA3 SLC12A6 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SOX3

More info about this panel

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

Muscle Disease with Ptosis / External Ophthalmoplegia Panel

Germany.

By MGZ Medical Genetics Center Muscle Disease with Ptosis / External Ophthalmoplegia that also includes the following genes: RYR1 SLC25A4 TWNK RRM2B CHAT KIF21A CHRNA1 CHRNB1 CHRND CHRNE

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

Myotubular myopathy X-linked Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the MTM1 gene.

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

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

Single gene testing MTM1 Panel

Germany.

By CeGaT GmbH

This panel specifically test the MTM1 gene.

More info about this panel

MTM1 - Gene sequencing Panel

Netherlands.

By Clinical Genetics Academic Medical Center

This panel specifically test the MTM1 gene.

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

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 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 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

Invitae Centronuclear Myopathy Panel Panel

United States.

By Invitae Invitae Centronuclear Myopathy Panel that also includes the following genes: RYR1 BIN1 TTN CCDC78 DNM2 MTM1

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

Myotubular myopahy, X-linked: MTM1 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the MTM1 gene.

More info about this panel

Myotubular myopahy, X-linked: MTM1 gene deletions-duplications analysis (MLPA) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the MTM1 gene.

More info about this panel

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

X-Linked Myotubular Myopathy: MTM1 Full Gene Sequencing Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the MTM1 gene.

More info about this panel

X-Linked Myotubular Myopathy: MTM1 Gene Deletion/Duplication Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics

This panel specifically test the MTM1 gene.

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

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

XLID NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics XLID NGS Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5 SYN1

More info about this panel

MTM1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the MTM1 gene.

More info about this panel

X-chromosome High Resolution microarray analysis Panel

United States.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center X-chromosome High Resolution microarray analysis that also includes the following genes: RP2 RPGR RPL10 RPS6KA3 RS1 SAT1 SH2D1A SHOX SLC16A2 SLC35A2

More info about this panel

X-linked Intellectual Disability Panel Panel

Finland.

By Blueprint Genetics X-linked Intellectual Disability Panel that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC6A8 SLC9A6 SMC1A KDM5C SMS SOX3 CDKL5

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

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

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

X-linked centronuclear myopathy Panel

Spain.

By Bioarray

This panel specifically test the MTM1 gene.

More info about this panel

Rapid microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

More info about this panel

High-Resolution Rapid Microarray (CGH and SNP) Panel

United States.

By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A

More info about this panel

MYOTUBULAR / CENTRONUCLEAR MYOPATHY (X-LINKED) Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the MTM1 gene.

More info about this panel

CENTRONUCLEAR MYOPATHY NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL CENTRONUCLEAR MYOPATHY NGS PANEL that also includes the following genes: RYR1 BIN1 SPEG MAMLD1 MTMR14 DNM2 MTM1 MYF6

More info about this panel

X-Linked Myotubular Myopathy , Sequencing MTM1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the MTM1 gene.

More info about this panel

X-Linked Myotubular Myopathy , Deletions-Duplications (MLPA) MTM1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the MTM1 gene.

More info about this panel

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

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

Centronuclear Myopathy , Panel Massive Sequencing (NGS) 5 Genes Panel

Spain.

By Reference Laboratory Genetics Centronuclear Myopathy , Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: RYR1 BIN1 DNM2 MTM1 MYF6

More info about this panel

Centronuclear Myopathy: gene deletion/duplication Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the MTM1 gene.

More info about this panel

Centronuclear Myopathy: gene sequencing Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics

This panel specifically test the MTM1 gene.

More info about this panel


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