First Clinical and Myopathological Description of a...

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Human Mutation 2020 / 06

First Clinical and Myopathological Description of a Myofibrillar Myopathy with Congenital Onset and Homozygous Mutation in FLNC

Kölbel, Heike, Roos, Andreas, Ven, Peter F M, Evangelista, Teresinha, Nolte, Kay, Johnson, Katherine, Töpf, Ana, Wilson, Michael, Kress, Wolfram, Sickmann, Albert, Straub, Volker, Kollipara, Laxmika
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Journal:
Human Mutation
DOI:
10.1002/humu.24062
Date:
June, 2020
File:
PDF, 824 KB
2020
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