Exome Sequencing Reveals A COL6A1 Mutation in A Korean Autosomal Dominant Bethlem Myopathy Family

来源 :The 12th Annual Asian and Oceanian Myology Center (AOMC)Scie | 被引量 : 0次 | 上传用户：xuzhidanxu

【摘要】

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【作者】

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Hyung Jun Park Julie Jeong Young-Chul Choi

【机构】

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Department of Neurology, Yonsei University College of Medicine, Seoul, Korea

【出处】

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The 12th Annual Asian and Oceanian Myology Center (AOMC)Scie

【发表日期】

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2013年7期

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Background and Purpose Muscular dystrophy is a heterogeneous disorder characterized by muscle weakness and wasting.A step-by-step approach is conventionally used for diagnosis.Recent advances of next-generation sequencing change this diagnostic approach.Here, wedescribe the use of whole exome sequencing (WES) to identify genetic cause in a Korean family with dominantly inherited myopathy.

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Exome Sequencing Reveals A COL6A1 Mutation in A Korean Autosomal Dominant Bethlem Myopathy Family

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