Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10.

We identified a homozygous missense variant in TTN, which likely explains LGMD type 10 in this family in line with similar previously reported data. Our study concludes that WES is a successful molecular diagnostic tool to identify pathogenic variants in large genes such as TTN in highly inbred population.