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

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    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
    Issue Date
    2011-03
    MeSH
    Adult
    Charcot-Marie-Tooth Disease
    Humans
    Isoleucine
    Male
    Mutation
    Myelin P0 Protein
    Neural Conduction
    Pupil
    Threonine
    
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    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
    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
    ISSN
    1873-2364
    ae974a485f413a2113503eed53cd6c53
    10.1016/j.nmd.2010.12.010
    Scopus Count
    Collections
    Tallaght University Hospital

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