Characterisation of novel point mutations in the survival motor neuron gene SMN, in three patients with SMA |
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| Authors: | Leigh Skordis Matthew Dunckley Lydia Burglen Louise Campbell Kevin Talbot Shobna Patel Judith Melki Kay Davies Victor Dubowitz Francesco Muntoni |
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| Institution: | Dubowitz Neuromuscular Centre, Department of Paediatrics, Imperial College School of Medicine, Hammersmith Hospital, London, UK. |
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| 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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