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

Limb-girdle muscular dystrophies (LGMDs) are large group of heterogeneous genetic diseases, having a hallmark feature of muscle weakness. Pathogenic mutations in the gene encoding the giant skeletal muscle pro...

Source: BMC Medical Genetics - October 29, 2019 Category: Genetics & Stem Cells Authors: Amjad Khan, Rongrong Wang, Shirui Han, Muhammad Umair, Safdar Abbas, Muhammad Ismail Khan, Mohammad A. Alshabeeb, Majid Alfadhel and Xue Zhang Tags: Research article Source Type: research