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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
6
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pubmed:dateCreated |
2000-9-15
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pubmed:abstractText |
We report on a 5-year-old boy with clinical and neuroradiological evidence of Leigh syndrome and peripheral neuropathy. Skeletal muscle biopsy showed decreased cytochrome c oxidase stain. Ultrastructurally, the nerve biopsy showed a defect of myelination. Biochemical analyses of muscle homogenate showed cytochrome c oxidase deficiency (15% residual activity). SURF1 gene analysis identified a novel homozygous nonsense mutation which predicts a truncated surf1 protein.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Aug
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pubmed:issn |
0960-8966
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
10
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
450-3
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:10899453-Biopsy,
pubmed-meshheading:10899453-Cytochrome-c Oxidase Deficiency,
pubmed-meshheading:10899453-Electron Transport Complex IV,
pubmed-meshheading:10899453-Humans,
pubmed-meshheading:10899453-Infant, Newborn,
pubmed-meshheading:10899453-Leigh Disease,
pubmed-meshheading:10899453-Male,
pubmed-meshheading:10899453-Membrane Proteins,
pubmed-meshheading:10899453-Mitochondria,
pubmed-meshheading:10899453-Mitochondrial Proteins,
pubmed-meshheading:10899453-Muscle, Skeletal,
pubmed-meshheading:10899453-Peripheral Nervous System Diseases,
pubmed-meshheading:10899453-Point Mutation,
pubmed-meshheading:10899453-Proteins,
pubmed-meshheading:10899453-Sural Nerve
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pubmed:year |
2000
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pubmed:articleTitle |
A novel SURF1 mutation results in Leigh syndrome with peripheral neuropathy caused by cytochrome c oxidase deficiency.
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pubmed:affiliation |
Department of Neurophysiopathology, Federico II University, Napoli, Italy.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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