OUP user menu

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