Detection of novel mutations in the SMN Tudor domain in type I SMA patients
- 13 July 2004
- journal article
- Published by Wolters Kluwer Health in Neurology
- Vol. 63 (1) , 146-149
- https://doi.org/10.1212/01.wnl.0000132634.48815.13
Abstract
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 of them, corroborating the existence of non-functional SMN1 genes.Keywords
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