Centronuclear myopathy with unusual clinical picture.
The authors describe two cases of familial muscle disease, a mother and her daughter, characterized by centrally placed nuclei and a predominance of hypotrophic type 1 fibers. Clinically the patients exhibited a muscular weakness and atrophy localized mainly distally. Both showed hypertrophy of their calves. The nosological classification of the cases is uncertain; however, both are considered as examples of centronuclear myopathy with unusual clinical features.
D000328:Adult; D002467:Cell Nucleus / Q000473:pathology; D005260:Female; D006801:Humans; D008875:Middle Aged; D009132:Muscles / Q000473:pathology*; D009135:Muscular Diseases / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology