limb-girdle muscular dystrophy type 1C (LGMD1C)
Jump to navigation
Jump to search
Genetics
- inheritance can be autosomal dominant or autosomal recessive
- associated with severe deficiency of caveolin-3 in muscle fibers
Clinical manifestations
- calf hypertrophy
- mild to moderate proximal muscle weakness
More general terms
Additional terms
References
- ↑ Minetti C et al Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. Nature Genet 18:365-8, 1998 PMID: https://www.ncbi.nlm.nih.gov/pubmed/9537420