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Clinical features of the pathogenic m.5540G>A mitochondrial transfer RNA tryptophan gene mutation

Abstract:

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
Version:
Publisher's version

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Publisher copy:
10.1016/j.nmd.2016.08.009

Authors


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Department:
Oxford, MSD, Clinical Neurosciences
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Department:
Oxford, MSD, NDM, CCMP
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Funding agency for:
Daniels, MJ
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Funding agency for:
Poulton, J
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Funding agency for:
Poulton, J
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Funding agency for:
Poulton, J
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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:
1873-2364
ISSN:
0960-8966
Pubs id:
pubs:642570
URN:
uri:a6efcf34-3648-47f7-affd-d3ebf3c082a1
UUID:
uuid:a6efcf34-3648-47f7-affd-d3ebf3c082a1
Local pid:
pubs:642570

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