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ABSTRACT: Background
We describe herein the application of whole exome sequencing (WES) for the molecular genetic diagnosis of a large Korean family with dominantly inherited myopathy.Case report
The affected individuals presented with slowly progressive proximal weakness and ankle contracture. They were initially diagnosed with limb-girdle muscular dystrophy (LGMD) based on clinical and pathologic features. However, WES and subsequent capillary sequencing identified a pathogenic splicing-site mutation (c.1056+1G>A) in COL6A1, which was previously reported to be an underlying cause of Bethlem myopathy. After identification of the genetic cause of the disease, careful neurologic examination revealed subtle contracture of the interphalangeal joint in the affected members, which is a characteristic sign of Bethlem myopathy. Therefore, we revised the original diagnosis from LGMD to Bethlem myopathy.Conclusions
This is the first report of identification of COL6A1-mediated Bethlem myopathy in Korea, and indicates the utility of WES for the diagnosis of muscular dystrophy.
SUBMITTER: Park HJ
PROVIDER: S-EPMC4387485 | biostudies-literature | 2015 Apr
REPOSITORIES: biostudies-literature
Park Hyung Jun HJ Choi Young Chul YC Kim Seung Min SM Kim Se Hoon SH Hong Young Bin YB Yoon Bo Ram BR Chung Ki Wha KW Choi Byung Ok BO
Journal of clinical neurology (Seoul, Korea) 20141111 2
<h4>Background</h4>We describe herein the application of whole exome sequencing (WES) for the molecular genetic diagnosis of a large Korean family with dominantly inherited myopathy.<h4>Case report</h4>The affected individuals presented with slowly progressive proximal weakness and ankle contracture. They were initially diagnosed with limb-girdle muscular dystrophy (LGMD) based on clinical and pathologic features. However, WES and subsequent capillary sequencing identified a pathogenic splicing- ...[more]