Clinical, Pathological, and Genetic Features of Two Chinese Cases with Filamin C Myopathy

According to reports of known FLNC myopathy families, myocardial involvement occurs in one out of every three FLNC myopathy patients with a W2710X mutation. According to a previous report on FLNC myopathy, right bundle branch block occurs at the early disease course,[1] while other cardiac lesions mainly take place in patients with the long-term disease course (>20 years). [...]the carrying rate of normal population was zero. Since the parents of the two patients did not carry the same mutations as their child, the mutations detected were de novo mutations, signifying the alteration in a gene resulted from a mutation in a germ cell of the parent or in the fertilized egg itself. Limb weakness dominance in both of the cases is consistent with reports from abroad that FLNC mutations in the rod-overlapping domain cause proximal weakness myopathy. Since the clinical manifestations and histopathological features in these two cases meet the diagnosis criteria for MFMs, in addition to the genetic detection supporting this further, the diagnosis of FLNC myopathy can be made for them.