Familial centronuclear myopathy: a clinical and pathological study
- 1 August 1987
- journal article
- research article
- Published by Hindawi Limited in Acta Neurologica Scandinavica
- Vol. 76 (2) , 115-122
- https://doi.org/10.1111/j.1600-0404.1987.tb03554.x
Abstract
A congenital myotubular myopathy in a family is presented. An elderly woman, her daughter and her granddaughter showed the characteristic clinical and histological pattern of the disease. It is still a matter of debate whether the disease is of myopathic or neuropathic origin. The similarity of the muscle fibre with a myotube of the fetus might point towards an arrest of the maturation after 20th week of gestation perhaps caused by a lack of a trophic factor from the motor nerve.Keywords
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