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dc.contributor.authorMurphy, Sinéad M
dc.contributor.authorLaurá, Matilde
dc.contributor.authorBlake, Julian
dc.contributor.authorPolke, James
dc.contributor.authorBremner, Fion
dc.contributor.authorReilly, Mary M
dc.date.accessioned2012-12-05T11:43:24Z
dc.date.available2012-12-05T11:43:24Z
dc.date.issued2011-03
dc.identifier.citationConduction 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.en_GB
dc.identifier.issn1873-2364
dc.identifier.pmid21256749
dc.identifier.doi10.1016/j.nmd.2010.12.010
dc.identifier.urihttp://hdl.handle.net/10147/254538
dc.description.abstractWe 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.
dc.language.isoenen
dc.publisherNeuromuscular disorders : NMDen_GB
dc.rightsArchived with thanks to Neuromuscular disorders : NMDen_GB
dc.subject.meshAdult
dc.subject.meshCharcot-Marie-Tooth Disease
dc.subject.meshHumans
dc.subject.meshIsoleucine
dc.subject.meshMale
dc.subject.meshMutation
dc.subject.meshMyelin P0 Protein
dc.subject.meshNeural Conduction
dc.subject.meshPupil
dc.subject.meshThreonine
dc.titleConduction block and tonic pupils in Charcot-Marie-Tooth disease caused by a myelin protein zero p.Ile112Thr mutation.en_GB
dc.typeArticleen
dc.contributor.departmentDepartment 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.uken_GB
dc.identifier.journalNeuromuscular disorders : NMDen_GB
dc.description.provinceLeinsteren
html.description.abstractWe 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.


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