Optimized MLPA workflow for spinal muscular atrophy diagnosis: identification of a novel variant, NC_000005.10:g.(70919941_70927324)del in isolated exon 1 of SMN1 gene through long-range PCR

Mei Yao,Liya Jiang, Yicheng Yu,Yiqin Cui, Yuwei Chen,Dongming Zhou, Feng Gao,Shanshan Mao

BMC Neurology（2024）

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摘要

Spinal muscular atrophy (SMA) is a rare autosomal recessive hereditary neuromuscular disease caused by survival motor neuron 1 (SMN1) gene deletion or mutation. Homozygous deletions of exon 7 in SMN1 result in 95

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关键词

Spinal muscular atrophy,Exon 1,Isolated,g.70919941_70927324del,Diagnosis

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