Murphy, SM;
Ernst, D;
Wei, Y;
Laurà, M;
Liu, YT;
Polke, J;
Blake, J;
... Reilly, MM; + view all
(2013)
Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2.
Neurology
, 80
(23)
2106 - 2111.
10.1212/WNL.0b013e318295d789.
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Abstract
To describe the clinical and neurophysiologic phenotype of a family with hereditary sensory and autonomic neuropathy type 1 (HSANI) due to a novel mutation in SPTLC2 and to characterize the biochemical properties of this mutation.
| Type: | Article |
|---|---|
| Title: | Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2. |
| Location: | United States |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1212/WNL.0b013e318295d789 |
| Publisher version: | http://dx.doi.org/10.1212/WNL.0b013e318295d789 |
| Language: | English |
| Additional information: | © 2013 American Academy of Neurology. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
| Keywords: | Adult, Hereditary Sensory and Autonomic Neuropathies, Humans, Mutation, Pedigree, Phenotype, Sequence Analysis, DNA, Serine C-Palmitoyltransferase, Sphingolipids |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases |
| URI: | https://discovery.ucl.ac.uk/id/eprint/1393821 |
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