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Article

Extensive DNA deletion associated with severe disease alleles on spinal muscular atrophy homologues.

Annals of neurology - 1 Jul 1997

Wang C H, Carter T A, Das K, Xu J, Ross B M, Penchaszadeh G K, Gilliam T C

Abstract excerpt

Spinal muscular atrophy (SMA) is a motor neuron disease presenting with a wide spectrum of phenotypic variations. The primary cause of most, if not all, forms of childhood-onset spinal muscular atrophy appears to be the homozygous loss of the telomeric copy of the survival motor neuron (SMNT) gene. It is interesting that approximately half of all affected patients are likewise homozygous nulls for the neuronal...

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Source

Identifiers

PMID: 9225684
DOI: 10.1002/ana.410420109

Genes

NAIP

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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