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Case Reports
. 2001 Apr;108(4):356-7.
doi: 10.1007/s004390100497.

Characterisation of novel point mutations in the survival motor neuron gene SMN, in three patients with SMA

L A Skordis  1 , M G Dunckley, L Burglen, L Campbell, K Talbot, S Patel, J Melki, K E Davies, V Dubowitz, F Muntoni
Affiliations
Case Reports

Characterisation of novel point mutations in the survival motor neuron gene SMN, in three patients with SMA

L A Skordis et al. Hum Genet. 2001 Apr.

Abstract

We report two novel mutations in three cases of spinal muscular atrophy (SMA), including two distant cousins who followed an unexpectedly severe course. Diagnosis was confirmed by reduced SMN protein and full-length SMN mRNA levels. Sequencing of the non-deleted SMN1 gene revealed a single G insertion at the end of exon 1 in the two cousins and a novel G275S exon 6 missense mutation in the milder case.

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