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Article

Detection of novel mutations in the SMN Tudor domain in type I SMA patients.

Neurology - 13 Jul 2004

Cuscó I, Barceló M Jesus, del Río E, Baiget M, Tizzano E F

Abstract excerpt

The authors present a complete SMN gene analysis in four type I unrelated spinal muscular atrophy patients who retained one copy of the SMN1 gene. Two intragenic point mutations were identified in exon 3 (I116F, Q136E), affecting a very conserved region with the Tudor domain of SMN1. The remaining two patients showed no alterations in the SMN1 coding sequences although a transcription defect was detected in one...

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Source

Identifiers

PMID: 15249625
DOI: 10.1212/01.wnl.0000132634.48815.13

Genes

SMN1

Variants

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.

Related research

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Detection of novel mutations in the SMN Tudor domain in type I SMA patients.PMID 15249625Read ↗

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