"Myotubular Myopathy" and "type I fiber atrophy" in a family - PubMed (original) (raw)
Case Reports
"Myotubular Myopathy" and "type I fiber atrophy" in a family
M Kinoshita et al. J Neurol Sci. 1975 Dec.
Abstract
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.
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