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Article

No evidence of association between apolipoprotein E genotype and phenotypic severity in childhood onset proximal spinal muscular atrophy.

Neuromuscular disorders : NMD - 1 Oct 1999

Morrison K E, Steers G, Dubowitz V

Abstract excerpt

The survival motor neuron (SMN) gene is present in two copies on chromosome 5q13 and the evidence is now compelling that mutations in the telomeric copy (SMNt) of the gene underlie childhood onset proximal spinal muscular atrophy (SMA). There is a correlation between the number of centromeric SMN gene copies (SMNc) and the clinical severity of the disease but this relationship is not absolute. Allelic variants of...

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Source

Identifiers

PMID: 10545039
DOI: 10.1016/s0960-8966(99)00036-x

Genes

APOE

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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No evidence of association between apolipoprotein E genotype and phenotypic severity in childhood onset proximal spinal muscular atrophy.PMID 10545039Read ↗

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Association between centromeric deletions of the SMN gene and sporadic adult‐onset lower motor neuron diseaseSemantic proximity Read ↗

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SMN(T) and NAIP mutations in Canadian families with spinal muscular atrophy (SMA): genotype/phenotype correlations with disease severity.Semantic proximity Read ↗

Large scale deletions of the 5q13 region are specific to Werdnig-Hoffmann disease.Semantic proximity Read ↗

An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA).Semantic proximity Read ↗

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