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Korean Journal of Neuromuscular Disorders 2015;7(2):79-84.
Identification of Compound Heterozygous DYSF Mutations Using Whole Exome Sequencing in a Myopathy with Decreased Acid-Alpha Glucosidase Activity
Hyung Jun Park, Ji-Hyun Choi, Young-Chul Choi, Kee Duk Park
aDepartment of Neurology, Mokdong Hospital, Ewha Womans University School of Medicine; bDepartment of Neurology, Yonsei University College of Medicine, Seoul, Korea
산성 알파 글루코시다아제가 감소한 근육병에서 Whole Exome Sequencing을 이용한 DYSF 유전자 복합이형접합돌연변이의 규명
박형준, 최지현, 최영철, 박기덕
이화여자대학교 의과대학 목동병원 신경과a, 연세대학교 의과대학 신경과학교실b
Abstract
Background
This study was designed to identify the genetic cause in myopathy family with decreased acid-alpha glucosidase activity.
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