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A mitochondrial encephalomyopathy. A combined 31P magnetic resonance and biochemical investigation.

Abstract:

A 15-year-old girl presented with recurrent encephalopathic episodes, epilepsy, myopathy and chronic lactic acidosis. A muscle biopsy revealed the presence of ragged red fibres and mitochondria with paracrystalline inclusions. Biochemical studies on freshly isolated skeletal muscle mitochondria demonstrated a deficiency of NADH-CoQ reductase activity. Investigation of her gastrocnemius muscle at rest by phosphorus nuclear magnetic resonance displayed a reduced phosphocreatine concentration wi...

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Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Neuroscience
Arnold, DL More by this author
Galloway, G More by this author
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Journal:
Journal of the neurological sciences
Volume:
71
Issue:
1
Pages:
105-118
Publication date:
1985-11-05
DOI:
EISSN:
1878-5883
ISSN:
0022-510X
URN:
uuid:cf12888b-76c0-4207-84aa-147dbfe40a6b
Source identifiers:
248120
Local pid:
pubs:248120

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