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Juvenile limb-girdle muscular dystrophy
Clinical, histopathological and genetic data from a small community living in the Reunion Island

M. Fardeau, D. Hillaire, C. Mignard, N. Feingold, J. Feingold, D. Mignard, B. de Ubeda, H. Collin, F. M. S. Tomé, I. Richard, J. Beckmann
DOI: http://dx.doi.org/10.1093/brain/119.1.295 295-308 First published online: 1 February 1996

Summary

Summary 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).

  • limb-girdle muscular dystrophy
  • calpain
  • epidemiology
  • muscle biopsy
  • molecular genetics