limb-girdle muscular dystrophy type 1C (LGMD1C)

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

Database Correlations

OMIM correlations MORBIDMAP 601253

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: 9537420