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Familial centronuclear myopathy: a clinical and pathological study
E Reske-Nielsen1, O Hein-Sørensen, P Vorre
1Department of Neuropathology, Aarhus Kommunehospital, Aarhus, Denmark.
Acta Neurologica Scandinavica
|August 1, 1987
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.