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Cranial nerves palsy as an initial feature of an early onset distal hereditary motor neuropathy - A new distal hereditary motor neuropathy phenotype

The result's identifiers

  • Result code in IS VaVaI

    <a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F09%3A5388" target="_blank" >RIV/00064203:_____/09:5388 - isvavai.cz</a>

  • Alternative codes found

    RIV/00216208:11130/09:5388

  • Result on the web

  • DOI - Digital Object Identifier

Alternative languages

  • Result language

    angličtina

  • Original language name

    Cranial nerves palsy as an initial feature of an early onset distal hereditary motor neuropathy - A new distal hereditary motor neuropathy phenotype

  • Original language description

    Distal hereditary motor neuropathy is a heterogeneous group of disorders characterised by a pure motor axonal neuropathy. It is occasionally associated with additional signs such as facial weakness, vocal cord paralysis, weakness of the diaphragm, and pyramidal signs. Although predominantly the inheritance is autosomal dominant, all types of inheritance have been described. Here we report a Czech family with cranial nerves palsy as an initial feature of a non progressive infantile onset dominant distalhereditary motor neuropathy. This family may represent a new subtype of distal hereditary motor neuropathy. (C) 2009 Elsevier B.V. All rights reserved.

  • Czech name

  • Czech description

Classification

  • Type

    J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

  • CEP classification

    FH - Neurology, neuro-surgery, nuero-sciences

  • OECD FORD branch

Result continuities

  • Project

  • Continuities

    V - Vyzkumna aktivita podporovana z jinych verejnych zdroju

Others

  • Publication year

    2009

  • Confidentiality

    S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Data specific for result type

  • Name of the periodical

    Neuromuscular Disorders

  • ISSN

    0960-8966

  • e-ISSN

  • Volume of the periodical

    19

  • Issue of the periodical within the volume

    6

  • Country of publishing house

    US - UNITED STATES

  • Number of pages

    2

  • Pages from-to

  • UT code for WoS article

    000268305200009

  • EID of the result in the Scopus database