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Article

Modification of phenotype by SMN2 copy numbers in two Chinese families with SMN1 deletion in two continuous generations.

Clinica chimica acta; international journal of clinical chemistry - 20 Nov 2012

Chen Wan-Jin, He Jin, Zhang Qi-Jie, Lin Qi-Fang, Chen Ya-Fang, Lin Xiao-Zhen, Lin Min-Ting, Murong Shen-Xing, Wang Ning

Abstract excerpt

BACKGROUND: As a lethal autosomal recessive hereditary disorder, childhood spinal muscular atrophy (SMA) is caused by mutations of the survival motor neuron 1 (SMN1) gene. Most of the patients died at early stage or were seriously disabled, which accounts partly for the scarcity of two continuous generations with SMA. Increasing evidence indicated that SMN2 copy number was a modifier of SMA, but in majority of...

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Source

Identifiers

PMID: 22884440
DOI: 10.1016/j.cca.2012.07.020

Genes

SMN2
SMN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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