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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 |
2005-2-24
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pubmed:databankReference |
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pubmed:abstractText |
To determine the phenotype variability associated with the specific C-terminal M-line titin mutation known to cause autosomal dominant distal myopathy, tibial muscular dystrophy (TMD; MIM 600334), and limb girdle muscular dystrophy 2J (LGMD2J).
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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 |
Feb
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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 |
64
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
636-42
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:15728284-Age of Onset,
pubmed-meshheading:15728284-Atrophy,
pubmed-meshheading:15728284-Cardiomyopathy, Dilated,
pubmed-meshheading:15728284-Chromosomes, Human, Pair 2,
pubmed-meshheading:15728284-Consanguinity,
pubmed-meshheading:15728284-DNA Mutational Analysis,
pubmed-meshheading:15728284-Exons,
pubmed-meshheading:15728284-Finland,
pubmed-meshheading:15728284-Genes, Dominant,
pubmed-meshheading:15728284-Genetic Heterogeneity,
pubmed-meshheading:15728284-Genetic Predisposition to Disease,
pubmed-meshheading:15728284-Genotype,
pubmed-meshheading:15728284-Haplotypes,
pubmed-meshheading:15728284-Humans,
pubmed-meshheading:15728284-Magnetic Resonance Imaging,
pubmed-meshheading:15728284-Muscle, Skeletal,
pubmed-meshheading:15728284-Muscle Proteins,
pubmed-meshheading:15728284-Muscle Weakness,
pubmed-meshheading:15728284-Muscular Dystrophies, Limb-Girdle,
pubmed-meshheading:15728284-Phenotype,
pubmed-meshheading:15728284-Polymorphism, Single-Stranded Conformational,
pubmed-meshheading:15728284-Protein Kinases
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pubmed:year |
2005
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pubmed:articleTitle |
Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J.
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pubmed:affiliation |
Neurological Department, Vaasa Central Hospital, Finland. Bjarne.Udd@vshp.fi
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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