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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
3
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pubmed:dateCreated |
2008-3-11
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pubmed:abstractText |
The number of molecular causes of MELAS (a syndrome consisting of mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes) and Leigh syndrome (LS) has steadily increased. Among these, mutations in the ND5 gene (OMIM 516005) of mitochondrial DNA are important, and the A13513A change has emerged as a hotspot.
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pubmed:grant |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Mar
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pubmed:issn |
0003-9942
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
65
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
368-72
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pubmed:meshHeading |
pubmed-meshheading:18332249-Adult,
pubmed-meshheading:18332249-Child, Preschool,
pubmed-meshheading:18332249-DNA, Mitochondrial,
pubmed-meshheading:18332249-DNA Mutational Analysis,
pubmed-meshheading:18332249-Electron Transport Complex I,
pubmed-meshheading:18332249-Electron Transport Complex IV,
pubmed-meshheading:18332249-Family Health,
pubmed-meshheading:18332249-Female,
pubmed-meshheading:18332249-Humans,
pubmed-meshheading:18332249-Infant,
pubmed-meshheading:18332249-Leigh Disease,
pubmed-meshheading:18332249-MELAS Syndrome,
pubmed-meshheading:18332249-Male,
pubmed-meshheading:18332249-Middle Aged,
pubmed-meshheading:18332249-Mitochondrial Proteins,
pubmed-meshheading:18332249-Muscle, Smooth, Vascular,
pubmed-meshheading:18332249-Mutation,
pubmed-meshheading:18332249-Succinate Dehydrogenase
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pubmed:year |
2008
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pubmed:articleTitle |
The G13513A mutation in the ND5 gene of mitochondrial DNA as a common cause of MELAS or Leigh syndrome: evidence from 12 cases.
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pubmed:affiliation |
Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
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