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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
10
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pubmed:dateCreated |
2010-10-19
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pubmed:abstractText |
Filamin myopathy is a neuromuscular disorder manifesting with predominantly limb-girdle muscle weakness and in many patients with diaphragm paralysis and cardiomyopathy, caused by mutations in the filamin C (FLNC) gene. Molecular diagnosis of filamin myopathy based on direct DNA sequencing of coding exons is compromised by the presence of a high homology pseudogene (pseFLNC) located approximately 53.6 kb downstream of the functional FLNC gene on chromosome 7q.
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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 |
Oct
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pubmed:issn |
1434-6621
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
48
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1409-14
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pubmed:meshHeading |
pubmed-meshheading:20578970-Base Sequence,
pubmed-meshheading:20578970-Chromosomes, Human, Pair 7,
pubmed-meshheading:20578970-Cloning, Molecular,
pubmed-meshheading:20578970-Contractile Proteins,
pubmed-meshheading:20578970-DNA,
pubmed-meshheading:20578970-Exons,
pubmed-meshheading:20578970-Humans,
pubmed-meshheading:20578970-Microfilament Proteins,
pubmed-meshheading:20578970-Molecular Diagnostic Techniques,
pubmed-meshheading:20578970-Muscular Diseases,
pubmed-meshheading:20578970-Mutation,
pubmed-meshheading:20578970-Reverse Transcriptase Polymerase Chain Reaction,
pubmed-meshheading:20578970-Sequence Analysis, DNA
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pubmed:year |
2010
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pubmed:articleTitle |
DNA sequencing errors in molecular diagnostics of filamin myopathy.
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pubmed:affiliation |
National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892-9404, USA.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Intramural
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