"Myotubular Myopathy" and "type I fiber atrophy" in a family.
An 11-month-old girl and her mother had similar muscular weakness and wasting shich started in early life and were non-progressive throughout the course of the illness. Muscle biopsy in the girl revealed muscle fibers with central nuclei and surrounding clear areas compatible with myotubular, centronuclear or peri-centri-nuclear myopathy, whereas the biopsy from the mother showed a selective atrophy of Type I fibers without central nuclei. Since the grandfather also had similar clinical features, a heredofamilial neuromuscular disease was thought likely, and it is postulated that the pathological change in the girl represented an earlier, and in the mother a later manifestation of the same disease.
D003402:Creatine Kinase / Q000097:blood; D005260:Female; D006651:Histocytochemistry; D006801:Humans; D007223:Infant; D008297:Male; D009132:Muscles / Q000378:metabolism / Q000473:pathology*; D009468:Neuromuscular Diseases / Q000235:genetics* / Q000378:metabolism / Q000473:pathology
D003402:Creatine Kinase