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Article

Insights into genotype-phenotype correlations in spinal muscular atrophy: a retrospective study of 103 patients.

Muscle & nerve - 1 Jan 2011

Petit Florence, Cuisset Jean-Marie, Rouaix-Emery Nathalie, Cancés Claude, Sablonnière Bernard, Bieth Eric, Moerman Alexandre, Sukno Sylvie, Hardy Noah, Holder-Espinasse Muriel, Manouvrier-Hanu Sylvie, Vallée Louis

Abstract excerpt

Spinal muscular atrophy (SMA) is an autosomal recessive disorder associated with homozygous deletion of the survival motor neuron 1 gene (SMN1). Its centromeric copy gene, SMN2, is the major modifying factor. However, the genotype-phenotype correlation is incomplete and is therefore not useful in clinical practice. We studied a cohort of 103 patients in order to refine this correlation. In addition to standard...

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Source

Identifiers

PMID: 21171094
DOI: 10.1002/mus.21832

Genes

SMN2
SMN1

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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Insights into genotype-phenotype correlations in spinal muscular atrophy: a retrospective study of 103 patients.PMID 21171094Read ↗

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Genotype-phenotype correlation of SMN locus genes in spinal muscular atrophy children from Argentina.Semantic proximity Read ↗

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