The exon 55 deletion in the nebulin gene--one single founder mutation with world-wide occurrence.
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ABSTRACT:
SUBMITTER: Lehtokari VL
PROVIDER: S-EPMC2713598 | biostudies-literature | 2009 Mar
REPOSITORIES: biostudies-literature
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The exon 55 deletion in the nebulin gene--one single founder mutation with world-wide occurrence.
Lehtokari Vilma-Lotta VL Greenleaf Rebecca S RS DeChene Elizabeth T ET Kellinsalmi Mutsumi M Pelin Katarina K Laing Nigel G NG Beggs Alan H AH Wallgren-Pettersson Carina C
Neuromuscular disorders : NMD 20090215 3
In 2004, Anderson et al. reported a homozygous 2502 bp deletion including exon 55 of the nebulin gene in five Ashkenazi Jewish probands with nemaline myopathy. We determined the occurrence of this deletion in a world-wide series of 355 nemaline myopathy probands with no previously known mutation in other genes and found the mutation in 14 probands, two of whom represented families previously ascertained by Anderson et al. Two of the families were not of known Ashkenazi Jewish descent but they ha ...[more]
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