[Renewed interest in muscular dystrophy].
In the last years, the molecular approach of the muscular dystrophies with mutated gene and deficient protein identification has completely renewed the knowledge of these myopathies. The combination of the following data 1. clinical phenotype, transmission mode; 2. evidence of muscle protein expression deficiency by immunocytochemical assay; and 3. gene mutation allow an unquestionable identification of the muscle disease. A new dystrophy classification has been established: thus 3 groups of autosomal recessive dystrophies have been isolated on molecular grounds, calpainopathies, sarcoglycanopathies, dysferlinopathies; each of these corresponding to a particular clinical phenotype. A suitable genetic council is now possible in most dystrophies. Finally, therapeutical prospects using "molecular repairing" may be now considered.
Institut de myologie Hôpital de La Pitié-La Salpêtrière 75651 Paris.
B
B
Eymard
D005808:Genes, Recessive / Q000235:genetics; D005817:Genetic Counseling; D005820:Genetic Testing; D006801:Humans; D008967:Molecular Biology; D009136:Muscular Dystrophies / Q000145:classification / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D009154:Mutation / Q000235:genetics; D010641:Phenotype