Conduction block and tonic pupils in Charcot-Marie-Tooth disease caused by a myelin protein zero p.Ile112Thr mutation.

Hdl Handle:
http://hdl.handle.net/10147/254538
Title:
Conduction block and tonic pupils in Charcot-Marie-Tooth disease caused by a myelin protein zero p.Ile112Thr mutation.
Authors:
Murphy, Sinéad M; Laurá, Matilde; Blake, Julian; Polke, James; Bremner, Fion; Reilly, Mary M
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.uk
Citation:
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 : NMD
Journal:
Neuromuscular disorders : NMD
Issue Date:
Mar-2011
URI:
http://hdl.handle.net/10147/254538
DOI:
10.1016/j.nmd.2010.12.010
PubMed ID:
21256749
Abstract:
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:
Article
Language:
en
MeSH:
Adult; Charcot-Marie-Tooth Disease; Humans; Isoleucine; Male; Mutation; Myelin P0 Protein; Neural Conduction; Pupil; Threonine
ISSN:
1873-2364

Full metadata record

DC FieldValue Language
dc.contributor.authorMurphy, Sinéad Men_GB
dc.contributor.authorLaurá, Matildeen_GB
dc.contributor.authorBlake, Julianen_GB
dc.contributor.authorPolke, Jamesen_GB
dc.contributor.authorBremner, Fionen_GB
dc.contributor.authorReilly, Mary Men_GB
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.en_GB
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

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