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

Brain. 1996 Feb;119 ( Pt 1):295-308. doi: 10.1093/brain/119.1.295.

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 types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Chromosome Mapping
  • Chromosomes, Human, Pair 15
  • Cohort Studies
  • Consanguinity
  • Disease Progression
  • Female
  • Genotype
  • Humans
  • Male
  • Middle Aged
  • Molecular Biology
  • Muscles / diagnostic imaging
  • Muscles / pathology
  • Muscles / physiopathology
  • Muscular Dystrophies / epidemiology
  • Muscular Dystrophies / genetics*
  • Muscular Dystrophies / pathology*
  • Muscular Dystrophies / physiopathology
  • Mutation
  • Pedigree
  • Phenotype
  • Prevalence
  • Reunion / epidemiology
  • Thigh / diagnostic imaging
  • Tomography, X-Ray Computed