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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
2
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pubmed:dateCreated |
2004-1-27
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pubmed:abstractText |
The authors identified two novel heterozygous missense transitions in the gene for the mitochondrial polymerase gammaA subunit (POLG) in a family with an autosomal recessive syndrome comprising progressive external ophthalmoplegia (PEO), polyneuropathy, ataxia, sensorineural hearing loss, and affective disorders. These mutations were not detected in 120 healthy control subjects.
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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 |
Jan
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pubmed:issn |
1526-632X
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:day |
27
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pubmed:volume |
62
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
316-8
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:14745080-Adult,
pubmed-meshheading:14745080-Amino Acid Substitution,
pubmed-meshheading:14745080-Ataxia,
pubmed-meshheading:14745080-Cognition Disorders,
pubmed-meshheading:14745080-DNA Mutational Analysis,
pubmed-meshheading:14745080-DNA-Directed DNA Polymerase,
pubmed-meshheading:14745080-Exons,
pubmed-meshheading:14745080-Female,
pubmed-meshheading:14745080-Genes, Recessive,
pubmed-meshheading:14745080-Hearing Loss, Sensorineural,
pubmed-meshheading:14745080-Hereditary Sensory and Motor Neuropathy,
pubmed-meshheading:14745080-Heterozygote,
pubmed-meshheading:14745080-Humans,
pubmed-meshheading:14745080-Male,
pubmed-meshheading:14745080-Middle Aged,
pubmed-meshheading:14745080-Mood Disorders,
pubmed-meshheading:14745080-Mutation, Missense,
pubmed-meshheading:14745080-Ophthalmoplegia, Chronic Progressive External,
pubmed-meshheading:14745080-Pedigree,
pubmed-meshheading:14745080-Polymorphism, Restriction Fragment Length,
pubmed-meshheading:14745080-Syndrome
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pubmed:year |
2004
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pubmed:articleTitle |
POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness.
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pubmed:affiliation |
Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Case Reports,
Research Support, Non-U.S. Gov't
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