[Familial form of centronuclear myopathy in the adult].
Two adult cases of centronuclear myopathy are described in a family from French Guyana. One of them, aged 23, has a slight weakness despite hypertrophic muscles. A typical picture of centronuclear myopathy was seen on muscle biopsy with atrophy of type I fibers and hypertrophy of II A fibers. His uncle, aged 53, had a progressive weakness of the lower limbs for the last 25 years, with also a pattern of centronuclear myopathy, but with more dystrophic features and atrophy of both type I and II A fibers. The mode of inheritance is dominant. These two cases are compared with the previously published reports. The pathogenesis of centronuclear myopathy is discussed.
D000328:Adult; D002467:Cell Nucleus / Q000473:pathology; D005221:Fatigue / Q000209:etiology; D006801:Humans; D007866:Leg; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D009135:Muscular Diseases / Q000235:genetics* / Q000473:pathology; D009210:Myofibrils / Q000473:pathology; D010375:Pedigree
Forme familiale de myopathie centronucléaire de l'adulte