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- Title
Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island.
- Authors
Fardeau, M; Hillaire, D; Mignard, C; Feingold, N; Feingold, J; Mignard, D; de Ubeda, B; Collin, H; Tome, F M; Richard, I; Beckmann, J
- Abstract
A series of patients affected by a muscular dystrophy, similar to the original description of a juvenile scapulo-humeral form by Erb in 1884 and fitting with the criteria used to define limb-girdle muscular dystrophies, was discovered in a small community living in the southern part of Reunion Island in the Indian Ocean. A detailed clinical analysis was conducted over 5 years on a cohort of 20 patients. This community presented a high degree of consanguinity as it was segregated from the majority of the island population for more than a century. In previous molecular genetic studies, the disease locus has been mapped to chromosome 15p. Mutations were recently identified in a gene located in this region encoding for muscle-specific calcium activated neutral protease (CANP3). Clinical, pathological, genetic and complete identification of the mutations are presented here, establishing, for the first time, precise clinico-genetic correlations in this form of autosomal recessive, juvenile, limb-girdle muscular dystrophy (LGMD).
- Publication
Brain : a journal of neurology, 1996, Vol 119 ( Pt 1), p295
- ISSN
0006-8950
- Publication type
Journal Article
- DOI
10.1093/brain/119.1.295