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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
4
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pubmed:dateCreated |
2006-8-22
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pubmed:abstractText |
To describe a three-generation family with distal arthrogryposis associated with myopathy and caused by a mutation in the gene encoding for sarcomeric thin filament protein troponin I, TNNI2.
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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 |
22
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pubmed:volume |
67
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
597-601
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:16924011-Adult,
pubmed-meshheading:16924011-Arthrogryposis,
pubmed-meshheading:16924011-DNA Mutational Analysis,
pubmed-meshheading:16924011-Distal Myopathies,
pubmed-meshheading:16924011-Female,
pubmed-meshheading:16924011-Genetic Predisposition to Disease,
pubmed-meshheading:16924011-Humans,
pubmed-meshheading:16924011-Male,
pubmed-meshheading:16924011-Muscle, Skeletal,
pubmed-meshheading:16924011-Muscle Fibers, Fast-Twitch,
pubmed-meshheading:16924011-Mutation,
pubmed-meshheading:16924011-Pedigree,
pubmed-meshheading:16924011-Protein Isoforms,
pubmed-meshheading:16924011-Risk Assessment,
pubmed-meshheading:16924011-Risk Factors,
pubmed-meshheading:16924011-Sweden,
pubmed-meshheading:16924011-Troponin I
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pubmed:year |
2006
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pubmed:articleTitle |
A mutation in the fast skeletal muscle troponin I gene causes myopathy and distal arthrogryposis.
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pubmed:affiliation |
Department of Neuropediatrics, Uppsala University Children's Hospital, S-751 85 Uppsala, Sweden. eva.kimber@akademiska.se
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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