期刊
NEUROMUSCULAR DISORDERS
卷 19, 期 3, 页码 179-181出版社
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.nmd.2008.12.001
关键词
Nebulin; Mutation; Nemaline myopathy; Ashkenazi Jews
资金
- Academy of Finland
- Association Francaise contre les Myopathies
- Sigrid Juselius Foundation
- Finska Lakaresallskapet
- Medicinska understodsforeningen Liv och Halsa
- Australian National Health and Medical Research Council (NHMRC) [403904]
- Joshua Frase Foundation
- Lee and Penny Anderson Family Foundation
- NIH [AR44345]
- Muscular Dystrophy Association (USA)
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 had the haplotype known to segregate with this mutation. In all but two of eight homozygous patients, the clinical picture was more severe than in typical nemaline myopathy. (C) 2008 Elsevier B.V. All rights reserved.
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