We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Characterisation of novel point mutations in the survival motor neuron gene SMN, in three patients with SMA.
- Authors
Skordis, Leigh A.; Dunckley, Matthew G.; Burglen, Lydia; Campbell, Louise; Talbot, Kevin; Patel, Shobna; Melki, Judith; Davies, Kay E.; Dubowitz, Victor; Muntoni, Francesco
- 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.
- Subjects
GENES; MOTOR neurons; GENETIC mutation; SPINAL muscular atrophy; SPINAL cord diseases; HUMAN genetics; MOLECULAR genetics; GENETICS
- Publication
Human Genetics, 2001, Vol 108, Issue 4, p356
- ISSN
0340-6717
- Publication type
Article
- DOI
10.1007/s004390100497