Ontology highlight
ABSTRACT:
SUBMITTER: Richard I
PROVIDER: S-EPMC1712426 | biostudies-literature | 1997 May
REPOSITORIES: biostudies-literature
American journal of human genetics 19970501 5
Limb-girdle muscular dystrophies (LGMDs) are a group of neuromuscular diseases presenting great clinical heterogeneity. Mutations in CANP3, the gene encoding muscle-specific calpain, were used to identify this gene as the genetic site responsible for autosomal recessive LGMD type 2A (LGMD2A; MIM 253600). Analyses of the segregation of markers flanking the LGMD2A locus and a search for CANP3 mutations were performed for 21 LGMD2 pedigrees from various origins. In addition to the 16 mutations desc ...[more]