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Conduction block and tonic pupils in Charcot-Marie-Tooth disease caused by a myelin protein zero p.Ile112Thr mutation.
Murphy, Sinéad M Laurá, Matilde Blake, Julian Polke, James Bremner, Fion Reilly, Mary M
Murphy, Sinéad M
Laurá, Matilde
Blake, Julian
Polke, James
Bremner, Fion
Reilly, Mary M
Advisors
Editors
Other Contributors
Date
2011-03
Date Submitted
Keywords
Other Subjects
Subject Mesh
Adult
Charcot-Marie-Tooth Disease
Humans
Isoleucine
Male
Mutation
Myelin P0 Protein
Neural Conduction
Pupil
Threonine
Charcot-Marie-Tooth Disease
Humans
Isoleucine
Male
Mutation
Myelin P0 Protein
Neural Conduction
Pupil
Threonine
Planned Date
Start Date
Collaborators
Principal Investigators
Alternative Titles
Publisher
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.
Language
en
ISSN
1873-2364
eISSN
ISBN
DOI
10.1016/j.nmd.2010.12.010
PMID
21256749