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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 |
2008-3-3
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pubmed:abstractText |
Desmin myopathy was identified in a Chinese man with complete heart block and mild proximal and distal limb weakness. A novel heterozygous missense S13F mutation of the desmin gene was found to be associated with the myopathy. Family members carrying the mutation showed a similar or milder phenotype. The mutation is located at a protein kinase-C phosphorylation site within a highly conserved nonapeptide sequence in the head domain of the desmin protein. Expression of the mutant desmin cDNA in cell lines induced large desmin accumulations associated with preservation of a filamentous network.
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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 |
Feb
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pubmed:issn |
0960-8966
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
18
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
178-82
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pubmed:meshHeading |
pubmed-meshheading:18061454-Adult,
pubmed-meshheading:18061454-Animals,
pubmed-meshheading:18061454-Asian Continental Ancestry Group,
pubmed-meshheading:18061454-Biopsy,
pubmed-meshheading:18061454-Breast Neoplasms,
pubmed-meshheading:18061454-Cell Line, Tumor,
pubmed-meshheading:18061454-Cricetinae,
pubmed-meshheading:18061454-Desmin,
pubmed-meshheading:18061454-Family Health,
pubmed-meshheading:18061454-Female,
pubmed-meshheading:18061454-Heart Block,
pubmed-meshheading:18061454-Humans,
pubmed-meshheading:18061454-Kidney,
pubmed-meshheading:18061454-Male,
pubmed-meshheading:18061454-Muscle Weakness,
pubmed-meshheading:18061454-Mutation, Missense,
pubmed-meshheading:18061454-Pedigree,
pubmed-meshheading:18061454-Phenotype,
pubmed-meshheading:18061454-Phosphorylation,
pubmed-meshheading:18061454-Protein Kinase C,
pubmed-meshheading:18061454-Transfection
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pubmed:year |
2008
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pubmed:articleTitle |
Characterization of a novel S13F desmin mutation associated with desmin myopathy and heart block in a Chinese family.
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pubmed:affiliation |
Neuromuscular Research Laboratory, National Neuroscience Institute, 11 Jalan Tan Tock Seng, Singapore 308433, Singapore.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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