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Article

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

American journal of medical genetics - 3 Oct 1997

Simard L R, Rochette C, Semionov A, Morgan K, Vanasse M

Abstract excerpt

Childhood-onset spinal muscular atrophy (SMA) is an autosomal recessive neuropathy characterized by selective degeneration of alpha-motor neuron cells of the spinal cord. Age of onset and motor development varies greatly among patients, but the molecular basis of this variability remains unclear. The SMA locus contains two copies of a 500-kb element and deletions within the telomeric element have been shown to be...

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Source

Identifiers

PMID: 9295075
DOI: 10.1002/(sici)1096-8628(19971003)72:1<51::aid-ajmg11>3.0.co;2-t

Genes

NAIP

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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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