Muscular dystrophy and myopathy_Paediatric
Gene: DNM2
PMID: 17932957, 19122038
Multiple individuals with centronuclear myopathy.
Age of onset is variable but typically in the early childhood.
Sources: OtherCreated: 5 May 2023, 1:20 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Centronuclear Myopathy 1 (MIM#160150; MONDO:0008048)
Publications
Weakness may be present during childhood or adolescence or may not become evident until the third decade of life, and some affected individuals become wheelchair-bound in their fifties.
Sources: Expert listCreated: 11 Jun 2020, 8:59 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Centronuclear myopathy 1, MIM# 160150
Publications
Gene: dnm2 has been classified as Green List (High Evidence).
Gene: dnm2 has been classified as Green List (High Evidence).
gene: DNM2 was added gene: DNM2 was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: DNM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DNM2 were set to 17932957; 19122038 Phenotypes for gene: DNM2 were set to Centronuclear Myopathy 1 (MIM#160150; MONDO:0008048) Review for gene: DNM2 was set to GREEN