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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 |
2003-8-12
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pubmed:databankReference |
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pubmed:abstractText |
The authors describe a family in which two individuals have clinical distal myopathy with rimmed vacuoles (DMRV). While the clinical and most of the pathologic features in these patients were compatible with a diagnosis of DMRV, the presence of inflammatory changes in the connective tissue between muscle fibers was not. Gene analysis revealed a compound heterozygous mutation in these individuals, characterized by V572L and I472T.
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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Aug
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pubmed:issn |
1526-632X
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:day |
12
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pubmed:volume |
61
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
384-6
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:12913203-Adult,
pubmed-meshheading:12913203-Amino Acid Substitution,
pubmed-meshheading:12913203-Carbohydrate Epimerases,
pubmed-meshheading:12913203-Connective Tissue,
pubmed-meshheading:12913203-DNA Mutational Analysis,
pubmed-meshheading:12913203-Genes, Recessive,
pubmed-meshheading:12913203-Heterozygote,
pubmed-meshheading:12913203-Humans,
pubmed-meshheading:12913203-Japan,
pubmed-meshheading:12913203-Male,
pubmed-meshheading:12913203-Multienzyme Complexes,
pubmed-meshheading:12913203-Muscle, Skeletal,
pubmed-meshheading:12913203-Muscular Dystrophies,
pubmed-meshheading:12913203-Mutation, Missense,
pubmed-meshheading:12913203-Myositis,
pubmed-meshheading:12913203-Phosphotransferases (Alcohol Group Acceptor),
pubmed-meshheading:12913203-Vacuoles
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pubmed:year |
2003
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pubmed:articleTitle |
GNE mutations causing distal myopathy with rimmed vacuoles with inflammation.
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pubmed:affiliation |
Department of Neurology, Hokkaido University Graduate School of Medicine, Sapporo 060-8638, Japan. yabe@med.hokudai.ac.jp
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pubmed:publicationType |
Journal Article,
Case Reports
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