ABSTRACT
Spinal muscular atrophy (SMA) is a motor neuron disease caused by mutations in the telomeric copy of the survival motor neuron ( SMN T ) gene. Over 90% of SMA patients harbor a deletion of SMN T , but relatively few base-pair mutations have been reported. We report here a novel G279C mutation with a G to T transversion on exon 7 (nucleotide position 868) of SMN T . Another missense mutation has been reported recently on position 869. The fact that two mutations on the same codon both result in SMA suggest a functional significance of this amino acid within the SMN protein.
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Accepted: 19 March 1998
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Wang, C., Papendick, B., Bruinsma, P. et al. Identification of a novel missense mutation of the SMN T gene in two siblings with spinal muscular atrophy. Neurogenetics 1, 273–276 (1998). https://doi.org/10.1007/s100480050040
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DOI: https://doi.org/10.1007/s100480050040