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Article

FLNC-Associated Myofibrillar Myopathy

1 Jun 2021

Abstract excerpt

Objective To determine whether a new indel mutation in the dimerization domain of filamin C (FLNc) causes a hereditary myopathy with protein aggregation in muscle fibers, we clinically and molecularly studied a German family with autosomal dominant myofibrillar myopathy (MFM). Methods We performed mutational analysis in 3 generations, muscle histopathology, and proteomic studies of IM protein aggregates....

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PMID: 34235269
DOI: 10.1212/nxg.0000000000000590

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