Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10.
Bmc Medical Genetics
Khan, Amjad A; Wang, Rongrong R; Han, Shirui S; Umair, Muhammad M; Abbas, Safdar S; Khan, Muhammad Ismail MI; Alshabeeb, Mohammad A MA; Alfadhel, Majid M; Zhang, Xue X