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Familial centronuclear myopathy: a clinical and pathological study
E. Reske-Nielsen,
O. Hein-ßrensen,
P. Vorre,
Corresponding Author
E. Reske-Nielsen
Department of Neuropathology, Aarhus Kommunehospital, Aarhus, Denmark.
*Edith Reske-Nielsen M.D. Department of Neuropathology Aarhus Kommunehospital DK- 8000 Aarhus C DenmarkSearch for more papers by this authorO. Hein-ßrensen
Department of Neurology, Aarhus Kommunehospital, Aarhus, Denmark.
Search for more papers by this authorP. Vorre
Department of Neuropathology, Aarhus Kommunehospital, Aarhus, Denmark.
Search for more papers by this authorE. Reske-Nielsen,
O. Hein-ßrensen,
P. Vorre,
Corresponding Author
E. Reske-Nielsen
Department of Neuropathology, Aarhus Kommunehospital, Aarhus, Denmark.
*Edith Reske-Nielsen M.D. Department of Neuropathology Aarhus Kommunehospital DK- 8000 Aarhus C DenmarkSearch for more papers by this authorO. Hein-ßrensen
Department of Neurology, Aarhus Kommunehospital, Aarhus, Denmark.
Search for more papers by this authorP. Vorre
Department of Neuropathology, Aarhus Kommunehospital, Aarhus, Denmark.
Search for more papers by this authorAbstract
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.
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