[Molecular pathology of Duchenne and Becker muscular dystrophy].
Duchenne and Becker muscular dystrophies (DMD and BMD) are two allelic recessive X-linked disorders. Molecular deletions of various regions of the dystrophin gene are the main mutations detected in DMD and BMD patients. Molecular study of DMD and BMD DNA are instrumental to understand the pathological molecular mechanisms and the function of the protein. We describe here dystrophin and its interaction with a glycoprotein complex and we then focus on two particular patients with partial deletions of the dystrophin gene: 1) a typical Becker patient, who shows an intragenic deletion disrupting the reading frame. We describe in this case alternative splicings restoring the reading frame, which might explain the mild clinical phenotype of this patient, 2) a deletion of the distal part of the DMD gene coding for the carboxyterminal domain of the dystrophin in a young patient. The normal localization of dystrophin at the inner face of the plasma membrane in the muscle of this patient suggests that the last domain of this protein is not sufficient to anchor dystrophin at the membrane.
Gilgenkrantz
H
H
Institut Cochin de génétique moléculaire, INSERM U.129, Paris.
Chelly
J
J
Récan
D
D
Chafey
P
P
Kaplan
J C
JC
D016189:Dystrophin / Q000235:genetics; D006801:Humans; D009136:Muscular Dystrophies / Q000235:genetics* / Q000378:metabolism; D009154:Mutation / Q000235:genetics
D016189:Dystrophin
Pathologie moléculaire des dystrophies musculaires de Duchenne et de Becker.