Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution
Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution
About this item
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Publisher
England: Nature Publishing Group
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Language
English
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Publisher
England: Nature Publishing Group
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Scope and Contents
Contents
Familial visceral myopathy (FVM) is a rare heritable and heterogeneous condition due to impaired smooth muscle function. We identified a family segregating 11 individuals with a spectrum of visceral symptoms involving the small intestine, colon, biliary tract, urinary tract and uterus. Whole-exome sequencing revealed a novel heterozygous tandem bas...
Alternative Titles
Full title
Phenotypic expansion of visceral myopathy associated with ACTG2 tandem base substitution
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Record Identifier
TN_cdi_swepub_primary_oai_DiVA_org_uu_244419
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_swepub_primary_oai_DiVA_org_uu_244419
Other Identifiers
ISSN
1018-4813,1476-5438
E-ISSN
1476-5438
DOI
10.1038/ejhg.2015.49
