JUVENILE LIMB-GIRDLE MUSCULAR-DYSTROPHY CLINICAL, HISTOPATHOLOGICAL AND GENETIC DATA FROM A SMALL COMMUNITY LIVING IN THE REUNION-ISLAND

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 dys trophies, was discovered in a small community living in the southern p art of Reunion Island in the Indian Ocean. A detailed clinical analysi s was conducted over 5 years on a cohort of 20 patients. This communit y presented a high degree of consanguinity as it was segregated from t he majority of the island population for move than a century. In previ ous molecular genetic studies, the disease locus has been mapped to ch romosome 15p, Mutations were recently identified in a gene located in this region encoding for muscle-specific calcium activated neutral pro tease (CANP3). Clinical, pathological genetic and complete identificat ion of the mutations are presented here, establishing, for the first t ime, precise clinico-genetic correlations in this form of autosomal re cessive, juvenile, limb-girdle muscular dystrophy (LGMD).