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A case of mitochondrial myopathy with abnormal lactate and pyruvate metabolism. Jun-ichi Suzuki 1 , Seiji Matsuda 1 , Yasuo Igarashi 1 , Makoto Takeda 1 , Takashi Nakagawa 1 , Nobutada Tachi 2 , Masaaki Satoh 3 1Dept of Ophthalmol, Sapporo Med Coll 2Dept of Pediatrics, Sapporo Med Coll 3Dev of Surg Pathol, Sapporo Med Coll pp.635-639
Published Date 1989/4/15
DOI https://doi.org/10.11477/mf.1410210750
  • Abstract
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A 54-year-old female presented with bilateral ptosis of 10 years' duration. She also manifested total external ophthalmoplegia. Neurological find-ings were normal, including pupillary light reflex. Fundus findings were normal except myopic chor-ioretinal atrophy in the right eye.

Biopsy specimens from the brachial bioceps muscle showed ragged-red fibers with modifiedGomori trichrome stain. Electron microscopy showed accumulation of enlarged mitochondria in the subsarcolemmal space with paracrystalline inclusions. The patient was diagnosed as mitochon-drial myopathy.

She manifested normal electrocardiogram and no atrio-ventricular block. An aerobic exercise test caused rapid elevation in the plasma level of lactate and pyruvate. The elevation persisted for 30 minutes after the exercise. Abnormal lactate and pyruvate metabolism was thus elicited in associa-tion with mitochondrial myopathy


Copyright © 1989, Igaku-Shoin Ltd. All rights reserved.

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