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Presynaptic congenital myasthenic syndrome due to three novel mutations in SLC5A7 encoding the sodium-dependant high-affinity choline transporter

Abstract:

SLC5A7 encodes the presynaptic sodium-dependant high-affinity choline transporter 1 (CHT), which uptakes choline to the presynaptic nerve terminal following the breakdown of acetylcholine by the acetylcholinesterase within the synaptic cleft. We report 5 patients from three consanguineous families with congenital myasthenic syndrome type 20 caused by novel mutations in SLC5A7. The individuals from family 1 and 2 were homozygous for c.320G>A; (p.Arg107His) and c.886G>A (p.Ala296Thr), res...

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Publication status:
Published
Peer review status:
Peer reviewed

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Institution:
University of Oxford
Division:
MSD
Department:
NDM
Sub department:
Human Genetics Wt Centre
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
Paediatrics
Role:
Author
Publisher:
Elsevier
Journal:
Neuromuscular Disorders More from this journal
Volume:
31
Issue:
1
Pages:
21-28
Publication date:
2020-10-20
Acceptance date:
2020-10-15
DOI:
EISSN:
1873-2364
ISSN:
0960-8966
Pmid:
33250374
Language:
English
Keywords:
Pubs id:
1148793
Local pid:
pubs:1148793
Deposit date:
2021-01-20

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