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Article

Phenotype modifiers of spinal muscular atrophy: the number of SMN2 gene copies, deletion in the NAIP gene and probably gender influence the course of the disease.

Acta biochimica Polonica - 1 Jan 2009

Jedrzejowska Maria, Milewski Michał, Zimowski Janusz, Borkowska Janina, Kostera-Pruszczyk Anna, Sielska Danuta, Jurek Marta, Hausmanowa-Petrusewicz Irena

Abstract excerpt

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by mutations of the SMN1 gene. It is characterized by significant phenotype variability. In this study, we analyzed possible phenotype modifiers of the disease - the size of the deletion in the SMA region, the n...

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Source

Identifiers

PMID: 19287802

Genes

NAIP
SMN2
SMN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-19287802-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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