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Recognizable Pattern of Arthrogryposis and Congenital Myopathy Caused by the Recurrent TTN Metatranscript-only C.39974-11T > G Splice Variant

Luisa Averdunk,Sandra Donkervoort,Denise Horn,Stephan Waldmuller,Safoora Syeda,Sarah B. Neuhaus,Katherine R. Chao,Anne van Riesen,Darja Gauck,Tobias Haack,Anna S. Japp,Unaa Lee,Carsten G. Bonnemann,Ertan Mayatepek,Felix Distelmaier

Neuropediatrics（2022）

引用 3|浏览22
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关键词
congenital titinopathy,myopathy,titin,cardiomyopathy,case series,arthrogryposis
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