Conduction block and tonic pupils in Charcot-Marie-Tooth disease caused by a myelin protein zero p.Ile112Thr mutation.
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Affiliation
Department of Molecular Neuroscience, UCL Institute of Neurology, MRC Centre for Neuromuscular Diseases, The National Hospital for Neurology and Neurosurgery, London, UK. sinead.murphy@uclh.nhs.ukIssue Date
2011-03MeSH
AdultCharcot-Marie-Tooth Disease
Humans
Isoleucine
Male
Mutation
Myelin P0 Protein
Neural Conduction
Pupil
Threonine
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Conduction block and tonic pupils in Charcot-Marie-Tooth disease caused by a myelin protein zero p.Ile112Thr mutation. 2011, 21 (3):223-6 Neuromuscul. Disord.Publisher
Neuromuscular disorders : NMDJournal
Neuromuscular disorders : NMDDOI
10.1016/j.nmd.2010.12.010PubMed ID
21256749Abstract
We report a patient with Charcot-Marie-Tooth disease (CMT) due to the p.Ile112Thr mutation in myelin protein zero (MPZ) who presented with a patchy neuropathy with conduction block and tonic pupils. Conduction block is unusual in inherited neuropathies, while pupil abnormalities are recognised to occur in CMT especially due to MPZ mutations. This case highlights that patchy demyelinating neuropathy with conduction block may occur in p.Ile112Thr MPZ mutations. Involvement of the pupils, as in this case, may be a pointer towards a genetic rather than inflammatory cause of neuropathy.Item Type
ArticleLanguage
enISSN
1873-2364ae974a485f413a2113503eed53cd6c53
10.1016/j.nmd.2010.12.010
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