Muscular dystrophy and myopathy_Paediatric
Gene: MTM1
>4 cases reported with congenital myopathy (congenital fiber type disorder, centronuclear myopathy, myotubular myopathy). Hemizygous males and heterozygous females are reported.
Sources: LiteratureCreated: 1 Aug 2024, 12:20 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
X-linked myotubular myopathy MONDO:0010683
Publications
Variants in this GENE are reported as part of current diagnostic practice
Well established myopathy gene, onset and severity variable, but includes severe neonatal onset form.
Sources: Expert listCreated: 3 Jun 2020, 3:55 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Myotubular myopathy, X-linked, MIM# 310400
Publications
Gene: mtm1 has been classified as Green List (High Evidence).
Gene: mtm1 has been classified as Green List (High Evidence).
gene: MTM1 was added gene: MTM1 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature Mode of inheritance for gene: MTM1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: MTM1 were set to 30232666; 38982518; 10790201 Phenotypes for gene: MTM1 were set to X-linked myotubular myopathy MONDO:0010683 Review for gene: MTM1 was set to GREEN gene: MTM1 was marked as current diagnostic