Article
Consecutive analysis of mutation spectrum in the dystrophin gene of 507 Korean boys with Duchenne/Becker muscular dystrophy in a single center.
Muscle & nerve - 1 May 2017
Cho Anna, Seong Moon-Woo, Lim Byung Chan, Lee Hwa Jeen, Byeon Jung Hye, Kim Seung Soo, Kim Soo Yeon, Choi Sun Ah, Wong Ai-Lynn, Lee Jeongho, Kim Jon Soo, Ryu Hye Won, Lee Jin Sook, Kim Hunmin, Hwang Hee, Choi Ji Eun, Kim Ki Joong, Hwang Young Seung, Hong Ki Ho, Park Seungman, Cho Sung Im, Lee Seung Jun, Park Hyunwoong, Seo Soo Hyun, Park Sung Sup, Chae Jong Hee
Abstract excerpt
INTRODUCTION: Duchenne and Becker muscular dystrophies (DMD and BMD) are allelic X-linked recessive muscle diseases caused by mutations in the large and complex dystrophin gene. METHODS: We analyzed the dystrophin gene in 507 Korean DMD/BMD patients by multiple ligation-dependent probe amplification and direct sequencing. RESULTS: Overall, 117 different deletions, 48 duplications, and 90 pathogenic sequence...
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