Limb-Girdle Muscular Dystrophy and Distal Myopathy
Gene: MAMDC2
17 individuals with an autosomal dominant muscular dystrophy belonging to two unrelated families in which different heterozygous truncating variants in the last exon of MAMDC2 co-segregate correctly with the disease.
Sources: LiteratureCreated: 3 Aug 2023, 2:41 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Muscular Dystrophy MONDO:0020121, MAMDC2-related
Publications
Phenotypes for gene: MAMDC2 were changed from Muscular Dystrophy MONDO:0020121, MAMDC2-related to Muscular Dystrophy MONDO:0020121, MAMDC2-related
Gene: mamdc2 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: MAMDC2 were changed from Muscular Dystrophy to Muscular Dystrophy MONDO:0020121, MAMDC2-related
Gene: mamdc2 has been classified as Amber List (Moderate Evidence).
gene: MAMDC2 was added gene: MAMDC2 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature Mode of inheritance for gene: MAMDC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAMDC2 were set to 37503746 Phenotypes for gene: MAMDC2 were set to Muscular Dystrophy Review for gene: MAMDC2 was set to AMBER