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Article

Therapeutic advances in 5q-linked spinal muscular atrophy.

Arquivos de neuro-psiquiatria - 1 Apr 2018

Reed Umbertina Conti, Zanoteli Edmar

Abstract excerpt

Spinal muscular atrophy (SMA) is a severe and clinically-heterogeneous motor neuron disease caused, in most cases, by a homozygous mutation in the SMN1 gene. Regarding the age of onset and motor involvement, at least four distinct clinical phenotypes have been recognized. This clinical variability is, in part, related to the SMN2 copy number. By now, only supportive therapies have been available. However,...

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Share to SMN2 gene
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscular Atrophy, Spinal

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Share to Survival of Motor Neuron 1 Protein

Source

Identifiers

PMID: 29742241
DOI: 10.1590/0004-282x20180011

Genes

SMN1
SMN2

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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