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Article

Novel splice-site mutation in SMN1 associated with a very severe SMA-I phenotype.

Journal of molecular neuroscience : MN - 1 May 2015

Ronchi Dario, Previtali Stefano Carlo, Sora Maria Grazia Natali, Barera Graziano, Del Menico Benedetta, Corti Stefania, Bresolin Nereo, Comi Giacomo Pietro

Abstract excerpt

Spinal muscular atrophy (SMA) is a genetic disorder characterized by degeneration of motor neurons and muscle weakness and atrophy. The majority of patients harbor homozygous SMN1 deletions, resulting in an SMN1-null genotype. A variable number of copies of SMN2, the centromeric copy of SMN1, fails to compensate for the absence of SMN1 but can act as a modifier. Less than 5% of patients with SMA display...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25572663
DOI: 10.1007/s12031-014-0483-4

Genes

SMN1
SMN2

Provenance

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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