[Ocular myopathy with giant mitochondriae (author's transl)].
A case of progressive external ophthalmoplegia and a slight coincident affection of the scapulohumeral muscle group is recorded. Thorough examination including EMG and biopsy from ocular and skeletal muscle tissue confirmed the clinical diagnosis of myopathy. By means of electron microscopy the affection could be identified as a type of myopathy characterized by giant mitochondriae. Causative factors were not detectable. The function of the thyroid and the carnitine level in the muscle tissue and blood serum were normal.
D001706:Biopsy; D001763:Blepharoptosis / Q000175:diagnosis; D004576:Electromyography; D006801:Humans; D008297:Male; D008875:Middle Aged; D008931:Mitochondria, Muscle / Q000473:pathology*; D009132:Muscles / Q000473:pathology; D009133:Muscular Atrophy / Q000473:pathology; D009886:Ophthalmoplegia / Q000175:diagnosis / Q000473:pathology*
Okuläre Myopathie vom Riesenmitochondrientyp.