fig1

Figure 1. Pedigrees of five families with a total of 13 individuals carrying the FINmaj variant. Arrows indicate index patients. Two individuals from Family 1 are diagnosed with autosomal recessive limb-girdle muscular dystrophy type R10 (AR LGMDR10; MIM #608807, ORPHA:140922), while eleven exhibit autosomal dominant tibial muscular dystrophy (AD TMD). In Family 1, affected individuals carry an additional maternally inherited truncating TTN variant. In Family 4, Individual 12 harbors a second TTN variant classified as a VUS.