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Article

Compound heterozygous mutation in two unrelated cases of Chinese spinal muscular atrophy patients.

Chinese medical journal - 1 Feb 2011

Qu Yu-Jin, Song Fang, Yang Yan-Ling, Jin Yu-Wei, Bai Jin-Li

Abstract excerpt

BACKGROUND: Infantile proximal spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder. Approximately 90% - 95% cases of SMA result from homozygous deletion of survival motor neuron gene 1 (SMN1) and 5% cases are caused by compound heterozygous mutation (a SMN1 deleti...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21362338

Genes

SMN1
SMN2
NAIP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21362338-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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