TRIM32 biallelic defects cause limb-girdle muscular dystrophy R8: identification of two novel mutations and investigation of genotype –phenotype correlation

Limb-girdle muscular dystrophy R8 (LGMD R8) is a rare autosomal recessive muscle disease caused by TRIM32 gene biallelic defects. The genotype –phenotype correlation of this disease has been reported poorly. He...

Source: Skeletal Muscle - May 22, 2023 Category: Research Authors: Yuqing Guan, Xiongda Liang, Wei Li, Wanying Lin, Guanxia Liang, Hongting Xie, Yu Hou, Yafang Hu and Xuan Shang Tags: Research Source Type: research