PMID: 1206433Dec 1, 1975Paper

"Myotubular Myopathy" and "type I fiber atrophy" in a family

Journal of the Neurological Sciences
M KinoshitaN Matsuo

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.

References

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Citations

May 1, 1991·Journal of the Neurological Sciences·M S De AngelisC Doriguzzi
Jul 17, 1998·Journal of the Neurological Sciences·E ZanoteliA A Gabbai
Feb 1, 1985·Journal of Neurology, Neurosurgery, and Psychiatry·J R Ricoy, A Cabello
Sep 27, 2008·Orphanet Journal of Rare Diseases·Heinz JungbluthJocelyn Laporte
Sep 1, 1979·Acta paediatrica Scandinavica·B ReitterL Wille
Aug 1, 1998·Arquivos de neuro-psiquiatria·E ZanoteliA A Gabbai
Jul 1, 1992·Pediatric Pathology·R W TysonS I Goodman
May 1, 1997·Muscle & Nerve·M J DanonC Swisher
May 1, 1990·The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques·H B Sarnat
Jun 1, 1987·Arquivos de neuro-psiquiatria·J A LevyA Levy
Jul 1, 1980·Acta Neurologica Scandinavica·L PavoneG Pero

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