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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 |
2005-4-18
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pubmed:abstractText |
We performed detailed clinical, histopathological, biochemical, in vitro translation and molecular genetic analysis in patients from two unrelated families harbouring the tRNA(SerUCN) 7472C-insertion mutation. Proband 1 developed a progressive neurodegenerative phenotype characterised by myoclonus, epilepsy, cerebellar ataxia and progressive hearing loss. Proband 2 had a comparatively benign phenotype characterised by isolated myopathy with exercise intolerance. Both patients had the 7472C-insertion mutation in identical proportions and they exhibited a similar muscle biochemical and histopathological phenotype. However, proband 2 also had a previously unreported homoplasmic A to C transition at nucleotide position 7472 in the tRNA(SerUCN) gene. This change lengthens further the homopolymeric C run already expanded by the 7472C-insertion. These data extend the phenotypic range associated with the 7472C-insertion to include isolated skeletal myopathy, as well as a MERRF-like phenotype.
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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 |
May
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pubmed:issn |
0960-8966
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pubmed:author |
pubmed-author:DebonoA GAG,
pubmed-author:EunsonL HLH,
pubmed-author:HannaM GMG,
pubmed-author:LandonD NDN,
pubmed-author:LiolitsaDD,
pubmed-author:MarchingtonD RDR,
pubmed-author:Morgan-HughesJ AJA,
pubmed-author:NelsonI PIP,
pubmed-author:PoultonJJ,
pubmed-author:PulkesTT,
pubmed-author:RahmanSS,
pubmed-author:RoseMM
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pubmed:issnType |
Print
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pubmed:volume |
15
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
364-71
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:15833431-Adolescent,
pubmed-meshheading:15833431-Adult,
pubmed-meshheading:15833431-DNA, Mitochondrial,
pubmed-meshheading:15833431-DNA Mutational Analysis,
pubmed-meshheading:15833431-Electron Transport Complex IV,
pubmed-meshheading:15833431-Electrophoresis,
pubmed-meshheading:15833431-Female,
pubmed-meshheading:15833431-Humans,
pubmed-meshheading:15833431-Male,
pubmed-meshheading:15833431-Microscopy, Electron, Transmission,
pubmed-meshheading:15833431-Mitochondria, Muscle,
pubmed-meshheading:15833431-Mitochondrial Encephalomyopathies,
pubmed-meshheading:15833431-Mitochondrial Proteins,
pubmed-meshheading:15833431-Muscle, Skeletal,
pubmed-meshheading:15833431-Mutation,
pubmed-meshheading:15833431-Nucleic Acid Conformation,
pubmed-meshheading:15833431-Phenotype,
pubmed-meshheading:15833431-RNA, Transfer, Ser,
pubmed-meshheading:15833431-Serine
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pubmed:year |
2005
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pubmed:articleTitle |
New phenotypic diversity associated with the mitochondrial tRNA(SerUCN) gene mutation.
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pubmed:affiliation |
Centre for Neuromuscular Disease, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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