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

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

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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....

Topics

Canada
Chimera
Cyclic AMP Response Element-Binding Protein
Exons
Female
Gene Deletion
Genotype
Haplotypes
Humans
Introns
Male
Muscular Atrophy, Spinal

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Nerve Tissue Proteins

Neuronal Apoptosis-Inhibitory Protein

Pedigree

Phenotype

RNA-Binding Proteins

SMN Complex Proteins

Source

Open in PubMed

Identifiers

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

Genes

NAIP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9295075-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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