Muscular dystrophy and myopathy_Paediatric
Gene: DYNC1H1
Phenotypes can resemble those similar to congenital myopathy
Age of onset ranges from birth to early childhood
PMID: 22459677
Phenotypes included early childood onset of proximal leg weakness with muscle atropy and significant motor delay
PMID: 25609763
>10 individuals with SMA phenotypic features similar to congenital myopathy
Sources: OtherCreated: 8 May 2023, 3:52 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinal muscular atrophy, lower extremity-predominant 1, (MIM#158600; MONDO:0008026)
Publications
The phenotype associated with this gene can sometimes resemble a myopathy. 4 families reported with heterozygous variants had an initial diagnosis resembling congenital myopathy or muscular dystrophy.
Sources: Expert listCreated: 23 Jul 2020, 12:28 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spinal muscular atrophy, lower extremity-predominant 1, AD MIM#158600
Publications
Gene: dync1h1 has been classified as Green List (High Evidence).
Gene: dync1h1 has been classified as Green List (High Evidence).
gene: DYNC1H1 was added gene: DYNC1H1 was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: DYNC1H1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DYNC1H1 were set to PMID: 2245967; 25609763 Phenotypes for gene: DYNC1H1 were set to Spinal muscular atrophy, lower extremity-predominant 1, (MIM#158600; MONDO:0008026) Review for gene: DYNC1H1 was set to GREEN