期刊
EUROPEAN JOURNAL OF HUMAN GENETICS
卷 20, 期 9, 页码 984-985出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ejhg.2012.39
关键词
myofibrillar myopathy; desmin; DES mutation; arrhythmogenic right ventricular cardiomyopathy 7; exome sequencing
资金
- Swedish Research Council [07122]
- Selander Foundation
Using exome sequencing we searched for the genetic cause of autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy (ARVC) in a Swedish family. A heterozygous C-to-T transition, c.1255C>T, p.Pro419Ser in the desmin gene on chromosome 2q35, was identified. Previous studies had demonstrated linkage to chromosome 10q22.3, but no causative mutation had been found in that region. Sanger sequencing of DNA from 17 family members confirmed the heterozygous c.1255C>T desmin mutation in seven out of ten family members that had been classified as affected in the previous study. Our new results demonstrate the usefulness of next-generation sequencing, and the diagnostic difficulties with some forms of dominantly inherited muscle diseases as they can display a wide clinical and morphological variability even within a given family. European Journal of Human Genetics (2012) 20, 984-985; doi:10.1038/ejhg.2012.39; published online 7 March 2012
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