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

Skeletal muscle - 22 May 2023

Guan Yuqing, Liang Xiongda, Li Wei, Lin Wanying, Liang Guanxia, Xie Hongting, Hou Yu, Hu Yafang, Shang Xuan

Abstract excerpt

BACKGROUND: 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. Here, we report a Chinese family with two female LGMD R8 patients. METHODS: We performed whole-genome sequencing (WGS) and Sanger sequencing on the proband. Meanwhile, the function of mutant TRIM32...

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Identifiers

PMID: 37217920
DOI: 10.1186/s13395-023-00319-x
PMCID: PMC10201696

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