Figure 1: Familial hypertrophic cardiomyopathy due to mutations in FLNC.
From: Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy
(a) Pedigree of the affected family (CAR2). Solid symbols indicate affected subjects, and open symbols unaffected relatives. Squares denote male family members, circles female members and slashed deceased members. Arrow indicates index case. (b) Partial sequence electropherogram of the FLNC gene with the nucleotide substitution identified in the three affected members analysed (family members III-1, II-7 and II-9). The heterozygous mutation c.4824G>A (arrow) causes a missense substitution p.A1539T. (c) Schematic representation of the filamin C protein with the position of the eight mutations identified in this work in patients with HCM (up) as well as the mutations reported in patients with myofibrillar myopathy (down).
