Muscular dystrophy and myopathy_Paediatric
Gene: MYOD1
Onset of condition is typically at birth.
PMID: 26733463
3 siblings from a first degree consanguineous family with myopathy phenotype.
PMID: 31260566
Two siblings from a fourth degree consansanguineous family with poor weight gain and motor delay and muscle biopsy suggestive of myopathy.
PMID: 30403323
Patient with motor delay, hypotonia identified with a homozygous variant in MYOD1 causative of congenital myopathy. The variant was shown to segregate in the family.
Sources: OtherCreated: 9 May 2023, 1:29 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital Myopathy 17 (MIM#618975)
Publications
Three unrelated families reported.
Sources: Expert listCreated: 21 Aug 2020, 6:50 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies, MIM# 618975
Publications
Gene: myod1 has been classified as Green List (High Evidence).
Gene: myod1 has been classified as Green List (High Evidence).
gene: MYOD1 was added gene: MYOD1 was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: MYOD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYOD1 were set to 26733463; 31260566; 30403323 Phenotypes for gene: MYOD1 were set to Congenital Myopathy 17 (MIM#618975) Review for gene: MYOD1 was set to GREEN