Journal article
Clinical features of the pathogenic m.5540G>A mitochondrial transfer RNA tryptophan gene mutation
- Abstract:
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Mitochondrial DNA disease is one of the most common groups of inherited neuromuscular disorders and frequently associated with marked phenotypic and genotypic heterogeneity. We describe an adult patient who initially presented with childhood-onset ataxia without a family history and an unremarkable diagnostic muscle biopsy. Subsequent multi-system manifestations included basal ganglia calcification, proteinuria, cataract and retinitis pigmentosa, prompting a repeat muscle biopsy that showed f...
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- Publication status:
- Published
- Peer review status:
- Peer reviewed
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- Files:
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(Version of record, pdf, 956.5KB)
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- Publisher copy:
- 10.1016/j.nmd.2016.08.009
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Authors
Funding
+ Medical Research Council
More from this funder
Funding agency for:
Poulton, J
Grant:
0948685/Z/10/Z
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Bibliographic Details
- Publisher:
- Elsevier Publisher's website
- Journal:
- Neuromuscular Disorders Journal website
- Volume:
- 26
- Issue:
- 10
- Pages:
- 702–705
- Publication date:
- 2016-08-17
- Acceptance date:
- 2016-08-15
- DOI:
- EISSN:
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1873-2364
- ISSN:
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0960-8966
- Pmid:
-
27618137
- Source identifiers:
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642570
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
pubs:642570
- UUID:
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uuid:a6efcf34-3648-47f7-affd-d3ebf3c082a1
- Local pid:
- pubs:642570
- Deposit date:
- 2016-10-05
Terms of use
- Copyright holder:
- Ng et al
- Copyright date:
- 2016
- Notes:
-
Copyright © 2016 The Authors. Published by Elsevier B.V. This is an open access article under the CC BY license (http://creativecommons.org/licenses/
by/4.0/)
- Licence:
- CC Attribution (CC BY)
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