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Article

Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number.

Human genetics - 1 May 2006

Wirth B, Brichta L, Schrank B, Lochmüller H, Blick S, Baasner A, Heller R

Abstract excerpt

Spinal muscular atrophy (SMA) is a recessive neuromuscular disorder caused by loss of the SMN1 gene. The clinical distinction between SMA type I to IV reflects different age of onset and disease severity. SMN2, a nearly identical copy gene of SMN1, produces only 10% of full-length SMN RNA/protein and is an excellent target for a potential therapy. Several clinical trials with drugs that increase the SMN2...

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Source

Identifiers

PMID: 16508748
DOI: 10.1007/s00439-006-0156-7

Genes

SMN2
SMN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number.PMID 16508748Read ↗

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Twenty-Five Years of Spinal Muscular Atrophy Research: From Phenotype to Genotype to Therapy, and What Comes Next.Semantic proximity Read ↗

Discrepancy in redetermination of SMN2 copy numbers in children with SMASemantic proximity Read ↗

Association between the SMN2 gene copy number and clinical characteristics of patients with spinal muscular atrophy with homozygous deletion of exon 7 of the SMN1 gene.Semantic proximity Read ↗

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