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Mutation analysis of 419 family and prenatal diagnosis of 339 cases of spinal muscular atrophy in China.

BMC medical genetics - 18 Jun 2020

Sun Yingjie, Kong Xiangdong, Zhao Zhenhua, Zhao Xuechao

Abstract excerpt

BACKGROUND: Spinal muscular atrophy (SMA) is a common and lethal autosomal recessive neurodegenerative disease caused by mutations in the survival motor neuron 1 (SMN1) gene. At present, gene therapy medicine for SMA, i.e., Spinraza (Nusinersen), has been approved by the FDA, bringing hope to SMA patients and families. Accurate diagnosis is essential for treatment. Our goal was to detect genetic mutations in SMA...

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Identifiers

PMID: 32552676
DOI: 10.1186/s12881-020-01069-z
PMCID: PMC7302341

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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