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Article

Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases.

Neuromuscular disorders : NMD - 1 Mar 2018

Calucho Maite, Bernal Sara, Alías Laura, March Francesca, Venceslá Adoración, Rodríguez-Álvarez Francisco J, Aller Elena, Fernández Raquel M, Borrego Salud, Millán José M, Hernández-Chico Concepción, Cuscó Ivon, Fuentes-Prior Pablo, Tizzano Eduardo F

Abstract excerpt

Spinal muscular atrophy (SMA) is a neuromuscular disorder caused by loss or mutations in SMN1. According to age of onset, achieved motor abilities, and life span, SMA patients are classified into type I (never sit), II (never walk unaided) or III (achieve independent walking abilities). SMN2, the highly homologous copy of SMN1, is considered the most important phenotypic modifier of the disease. Determination of...

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Topics

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Share to Databases, Genetic
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Muscular Atrophy, Spinal

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Share to Survival of Motor Neuron 2 Protein

Source

Identifiers

PMID: 29433793
DOI: 10.1016/j.nmd.2018.01.003

Genes

SMN2
SMN1

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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