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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
7
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pubmed:dateCreated |
2006-7-21
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pubmed:abstractText |
Progressive external ophthalmoplegia (PEO) is a mitochondrial disorder associated with defective enzymatic activities of oxidative phosphorylation (OXPHOS), depletion of mitochondrial DNA (mtDNA) and/or accumulation of mtDNA mutations and deletions. Recent positional cloning studies have linked the disease to four different chromosomal loci. Mutations in POLG1 are a frequent cause of this disorder.
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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 |
Jul
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pubmed:issn |
0340-5354
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
253
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
869-74
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:16715201-Adult,
pubmed-meshheading:16715201-Axons,
pubmed-meshheading:16715201-Child,
pubmed-meshheading:16715201-DNA, Mitochondrial,
pubmed-meshheading:16715201-DNA Mutational Analysis,
pubmed-meshheading:16715201-DNA-Directed DNA Polymerase,
pubmed-meshheading:16715201-Female,
pubmed-meshheading:16715201-Genetic Predisposition to Disease,
pubmed-meshheading:16715201-Genetic Testing,
pubmed-meshheading:16715201-Hereditary Sensory and Motor Neuropathy,
pubmed-meshheading:16715201-Homozygote,
pubmed-meshheading:16715201-Humans,
pubmed-meshheading:16715201-Male,
pubmed-meshheading:16715201-Muscle, Skeletal,
pubmed-meshheading:16715201-Mutation,
pubmed-meshheading:16715201-Ophthalmoplegia, Chronic Progressive External,
pubmed-meshheading:16715201-Pedigree,
pubmed-meshheading:16715201-Polyradiculoneuropathy
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pubmed:year |
2006
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pubmed:articleTitle |
A new POLG1 mutation with peo and severe axonal and demyelinating sensory-motor neuropathy.
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pubmed:affiliation |
Dipartimento di Scienze Neurologiche, Università degli Studi di Napoli Federico II, via Sergio Pansini 5, 80131, Napoli, Italia. lusantor@unina.it
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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