Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin
Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin
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Cham: Springer International Publishing
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Language
English
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Cham: Springer International Publishing
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Contents
To date, six genes are known to cause nemaline (rod) myopathy (NM), a rare congenital neuromuscular disorder. In an attempt to find a seventh gene, we performed linkage and subsequent sequence analyses in 12 Turkish families with recessive NM. We found homozygosity in two of the families at 1q12-21.2, a region encompassing the
γ
-tropomyosin...
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Full title
Identification of a founder mutation in TPM3 in nemaline myopathy patients of Turkish origin
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TN_cdi_proquest_miscellaneous_69456163
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_69456163
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ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/ejhg.2008.60
