Article
Two Novel Variants of the CAPN3 Gene in Chinese Patients with Limb-Girdle Muscular Dystrophy Recessive 1.
Human heredity - 1 Jan 2024
Zhang Lulu, Zhang Yi, Han Chunru, Jiang Juean, Jiang Jianhua, Cai Xiuying, Yu Liqiang, Qi Huan, Fang Qi, Ding Dongxue
Abstract excerpt
INTRODUCTION: Recessive mutations in the CAPN3 gene can lead to limb-girdle muscular dystrophy recessive 1 (LGMD R1). Targeted next-generation sequencing facilitates the discovery of new mutations linked with disease, owing to its ability to selectively enrich specific genomic regions. METHODS: We performed targeted next-generation sequencing of all exons of the CAPN3 gene in 4 patients with sporadic limb-girdle...
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