FLNC-Associated Myofibrillar Myopathy: New Clinical, Functional, and Proteomic Data.

ABSTRACT:

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. Functional consequences of the FLNC mutation were investigated with interaction and transfection studies and biophysics molecular analysis.

Results

Eight patients revealed clinical features of slowly progressive proximal weakness associated with a heterozygous c.8025_8030delCAAGACinsA (p.K2676Pfs*3) mutation in FLNC. Two patients exhibited a mild cardiom

SUBMITTER: Kley RA 

PROVIDER: S-EPMC8237399 | biostudies-literature | 2021 Jun

REPOSITORIES: biostudies-literature