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O.9Dominant Collagen XII-related myopathy with a distal myopathy phenotype, amenable to treatment with allele-specific knockdown

P. Mohassel,T. Liewluck,Y. Hu,D. Ezzo,D. Saade,S. Neuhaus,V. Bolduc,Y. Zou,S. Donkervoort,L. Medne,C. Sumner, P. Dyck,K. Wierenga,R. Finkel,J. Chen,T. Winder,N. Staff,M. Koch,A. Foley,C. Bönnemann

Neuromuscular Disorders（2019）

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关键词
distal myopathy phenotype,distal myopathy,collagen,xii-related,allele-specific
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