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[Identification of T274I mutation in the SMN1 gene in a patient with spinal muscular atrophy].

Medycyna wieku rozwojowego - 1 Jan 2000

Jedrzejowska Maria, Wiszniewski Wojciech, Ryniewicz Barbara, Hausmanowa-Petrusewicz Irena

Abstract excerpt

Proximal spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterised by degeneration of motor neurones in the spinal cord. The symptoms of the disease are determinated by mutations of SMN1 gene. About 98% of SMA patients show homozygous absence of exon 7 SMN1 gene, the rest carry small intragenic mutations. Molecular analysis of the presence of exon 7 SMN1 gene deletion is...

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Identifiers

PMID: 12810984

Genes

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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