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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 |
2004-5-10
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pubmed:abstractText |
We report a family with a clinical diagnosis of oculopharyngeal muscular dystrophy in which muscle biopsy showed mitochondrial changes such as cytochrome-c-oxidase-negative fibers and aggregates of mitochondria containing paracrystalline inclusions. Molecular analysis demonstrated a GCG expansion in the poly(A)-binding protein 2 (PABP2) gene and failed to demonstrate multiple deletions of mtDNA. We hypothesize that mitochondrial abnormalities may be a secondary phenomenon. This observation may suggest that the PABP2 gene could interfere in the posttranscriptional regulation of genes involved in mitochondrial function.
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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:issn |
0014-3022
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pubmed:author |
pubmed-author:BertiGG,
pubmed-author:BruttiniMM,
pubmed-author:CardaioliEE,
pubmed-author:De StefanoRR,
pubmed-author:FedericoAA,
pubmed-author:FranchLL,
pubmed-author:GambelliSS,
pubmed-author:GinanneschiFF,
pubmed-author:MalandriniAA,
pubmed-author:PEAKH JHJ,
pubmed-author:RenieriAA,
pubmed-author:RossiAA,
pubmed-author:SalvadoriCC
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pubmed:copyrightInfo |
Copyright 2004 S. Karger AG, Basel
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pubmed:issnType |
Print
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pubmed:volume |
51
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
144-7
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:14988608-Adult,
pubmed-meshheading:14988608-Aged,
pubmed-meshheading:14988608-Biopsy,
pubmed-meshheading:14988608-DNA, Mitochondrial,
pubmed-meshheading:14988608-Family Health,
pubmed-meshheading:14988608-Female,
pubmed-meshheading:14988608-Humans,
pubmed-meshheading:14988608-Inclusion Bodies,
pubmed-meshheading:14988608-Male,
pubmed-meshheading:14988608-Microscopy, Electron,
pubmed-meshheading:14988608-Middle Aged,
pubmed-meshheading:14988608-Mitochondria, Muscle,
pubmed-meshheading:14988608-Molecular Biology,
pubmed-meshheading:14988608-Muscle, Skeletal,
pubmed-meshheading:14988608-Muscular Dystrophy, Oculopharyngeal,
pubmed-meshheading:14988608-Neurologic Examination,
pubmed-meshheading:14988608-Pedigree,
pubmed-meshheading:14988608-Poly(A)-Binding Protein II,
pubmed-meshheading:14988608-Trinucleotide Repeat Expansion
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pubmed:year |
2004
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pubmed:articleTitle |
Mitochondrial abnormalities in genetically assessed oculopharyngeal muscular dystrophy.
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pubmed:affiliation |
Department of Neurological and Behavioral Sciences, University of Siena, Siena, Italy.
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pubmed:publicationType |
Journal Article,
Comparative Study
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