title: Neuromuscular investigations in retinitis pigmentosa.
abstract: Five patients with primary pigmentary dystrophy of the retina (retinitis pigmentosa) were tested on the integrity of their neuromuscular system. Clinical, electrophysiological and biochemical abnormalities were not found. A skeletal muscular biopsy was performed and histochemical, electron-microscopical and biochemical investigations were carried out. Only aspecific or minimal abnormalities were found. The mitochondrial functioning was especially explored and was found intact. Skeletal muscle examination is of no use in the study of retinitis pigmentosa.
mesh_terms: D003094:Collagen / Q000378:metabolism; D006801:Humans; D050356:Lipid Metabolism; D009132:Muscles / Q000378:metabolism / Q000503:physiopathology / Q000648:ultrastructure; D009431:Neural Conduction; D009469:Neuromuscular Junction / Q000378:metabolism / Q000503:physiopathology*; D012174:Retinitis Pigmentosa / Q000378:metabolism / Q000503:physiopathology*; D012677:Sensation / Q000502:physiology
chemical_list: D003094:Collagen