[Dysferlinopathy. Example of a new myopathy].
Over the past 10 years, the impact of modern microscopic pathology and molecular genetics on the knowledge of myopathies has been enormous. Dysferlinopathy is a good example. Dysferlin is a surface membrane protein without homology with known mammalian protein excepted otoferlin. It is encoded by a gene on chromosome 2. Miyoshi myopathy and limb girdle muscular dystrophy 2B have been reported to arise from defects in the same genetic locus (chromosome 2p 13). Some personal different examples are presented with typical features, high level of creatine kinase. Gene mutations, immunoblot and immunohistochemistry allow the diagnosis. Three clinical phenotypes are separated: distal myopathy, proximal myopathy, entire lower limbs posterior compartment amyotrophy. Structural changes are mild. Inflammation is not unusual and leads to the diagnosis of polymyositis. There are no correlation genotype-phenotype.
Serratrice
Georges
G
Académie nationale de médecine-16, rue Bonaparte-75272 Paris.
Pellissier
Jean-François
JF
N'Guyen
Varin
V
Attarian
Sharham
S
Pouget
Jean
J
D000073939:Dysferlin; D006801:Humans; D008565:Membrane Proteins; D009124:Muscle Proteins / Q000235:genetics*; D009136:Muscular Dystrophies / Q000235:genetics*; D009154:Mutation
C114839:DYSF protein, human; D000073939:Dysferlin; D008565:Membrane Proteins; D009124:Muscle Proteins