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Article

Novel point mutations in survival motor neuron 1 gene expand the spectrum of phenotypes observed in spinal muscular atrophy patients.

Neuromuscular disorders : NMD - 1 Jul 2014

Jędrzejowska Maria, Gos Monika, Zimowski Janusz G, Kostera-Pruszczyk Anna, Ryniewicz Barbara, Hausmanowa-Petrusewicz Irena

Abstract excerpt

The aim of our study was to identify point mutations in a group of 606 patients diagnosed for spinal muscular atrophy with excluded biallelic loss of the SMN1 gene. Point missense mutations or small deletions in the SMN1 gene were ultimately identified in 18 patients. Six patients were found to have small deletions, the c.429_435del mutation in 3 cases, the c.431delC mutation in 2 and c.722delC in one. Those...

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Source

Identifiers

PMID: 24844453
DOI: 10.1016/j.nmd.2014.04.003

Genes

SMN1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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