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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
5
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pubmed:dateCreated |
2004-11-1
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pubmed:abstractText |
Dominant optic atrophy has been associated with mutations in the OPA1 gene, which encodes for a dynamin-related GTPase, a mitochondrial protein implicated in the formation and maintenance of mitochondrial network and morphology. We used phosphorus magnetic resonance spectroscopy to assess calf muscle oxidative metabolism in six patients from two unrelated families carrying the c.2708-2711delTTAG deletion in exon 27 of the OPA1 gene. The rate of postexercise phosphocreatine resynthesis, a measure of mitochondrial adenosine triphosphate production rate, was significantly delayed in the patients. Our in vivo results show for the first time to our knowledge a deficit of oxidative phosphorylation in OPA1-related DOA.
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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 |
Nov
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pubmed:issn |
0364-5134
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pubmed:author |
pubmed-author:BarbiroliBrunoB,
pubmed-author:BarboniPieroP,
pubmed-author:BaruzziAgostinoA,
pubmed-author:CarelliValerioV,
pubmed-author:ClementiValeriaV,
pubmed-author:IottiStefanoS,
pubmed-author:LodiRaffaeleR,
pubmed-author:LonganesiLoraL,
pubmed-author:MalucelliEmilE,
pubmed-author:SchimpfSimoneS,
pubmed-author:TononCaterinaC,
pubmed-author:ValentinoMaria LuciaML,
pubmed-author:WissingerBerndB
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pubmed:issnType |
Print
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pubmed:volume |
56
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
719-23
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:15505825-Adenosine Triphosphate,
pubmed-meshheading:15505825-Adolescent,
pubmed-meshheading:15505825-Adult,
pubmed-meshheading:15505825-Aged,
pubmed-meshheading:15505825-DNA Mutational Analysis,
pubmed-meshheading:15505825-Exons,
pubmed-meshheading:15505825-Family Health,
pubmed-meshheading:15505825-Female,
pubmed-meshheading:15505825-GTP Phosphohydrolases,
pubmed-meshheading:15505825-Humans,
pubmed-meshheading:15505825-Magnetic Resonance Spectroscopy,
pubmed-meshheading:15505825-Male,
pubmed-meshheading:15505825-Middle Aged,
pubmed-meshheading:15505825-Mitochondria, Muscle,
pubmed-meshheading:15505825-Optic Atrophy, Autosomal Dominant,
pubmed-meshheading:15505825-Phosphocreatine,
pubmed-meshheading:15505825-Sequence Deletion,
pubmed-meshheading:15505825-Time Factors
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pubmed:year |
2004
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pubmed:articleTitle |
Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy.
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pubmed:affiliation |
Dipartimento di Medicina Clinica e Biotecnologia Applicata, Universita di Bologna, Bologna, Italy. raffaele.lodi@unibo.it
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pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, Non-U.S. Gov't
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