Familial centronuclear myopathy: a clinical and pathological study.
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.
Reske-Nielsen
E
E
Department of Neuropathology, Aarhus Kommunehospital, Aarhus, Denmark.
Hein-Sørensen
O
O
Vorre
P
P
D000328:Adult; D000368:Aged; D001369:Axons / Q000473:pathology; D001706:Biopsy; D002467:Cell Nucleus / Q000648:ultrastructure; D002648:Child; D005260:Female; D006801:Humans; D008854:Microscopy, Electron; D009046:Motor Neurons / Q000473:pathology; D009132:Muscles / Q000473:pathology; D009468:Neuromuscular Diseases / Q000235:genetics* / Q000473:pathology; D010375:Pedigree