| Identification of Compound Heterozygous DYSF Mutations Using Whole Exome Sequencing in a Myopathy with Decreased Acid-Alpha Glucosidase Activity |
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Hyung Jun Park, Ji-Hyun Choi, Young-Chul Choi, Kee Duk Park |
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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 |
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박형준, 최지현, 최영철, 박기덕 |
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이화여자대학교 의과대학 목동병원 신경과a, 연세대학교 의과대학 신경과학교실b |
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| Abstract |
Background
This study was designed to identify the genetic cause in myopathy family with decreased acid-alpha glucosidase activity. |
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