Functional characterization of desmin mutant p.P419S.

摘要

Recently, Hedberg et al identified a DES mutation (p.P419S) in a Swedish family, suffering from myofibrillar myopathy (MFM) in combination with arrhythmogenic right ventricular cardiomyopathy (ARVC), by next-generation sequencing. Originally, a linkage analysis indicated that the genetic defect is located on chromosome 10q22.3 in this family.2 The analysis of muscle biopsies of affected patients demonstrated an aggregation of desmin and further proteins.