Advances in the molecular genetics of the limb-girdle type of autosomal recessive progressive muscular dystrophy.
A reclassification of the limb-girdle types of autosomal recessive muscular dystrophy based on genetic and protein information has been made possible by major advances over the past 2 years. At least six different forms of limb-girdle types of autosomal recessive muscular dystrophy can be defined by their genetic basis, with at least two pathogenic mechanisms involved. Three forms are defined by involvement of different proteins of the sarcoglycan complex, while a muscle specific protease (calpain 3) is implicated in another form of the recessive disease. These findings provide the basis for a new diagnostic approach to the group, with molecular techniques now an essential part of the diagnostic process. A scheme for diagnosis in this group is proposed.
Beckmann
J S
JS
Genethon, Rue de L'Internationale, Evry, France.
Bushby
K M
KM
D003598:Cytoskeletal Proteins / Q000235:genetics; D049030:Dystroglycans; D016189:Dystrophin / Q000235:genetics; D006801:Humans; D008562:Membrane Glycoproteins / Q000235:genetics; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D049031:Sarcoglycans
D003598:Cytoskeletal Proteins; C483081:DAG1 protein, human; D016189:Dystrophin; D008562:Membrane Glycoproteins; D049031:Sarcoglycans; D049030:Dystroglycans