Article
Genetic spectrum of hereditary neuropathies with onset in the first year of life.
Brain : a journal of neurology - 1 Sept 2011
Baets Jonathan, Deconinck Tine, De Vriendt Els, Zimoń Magdalena, Yperzeele Laetitia, Van Hoorenbeeck Kim, Peeters Kristien, Spiegel Ronen, Parman Yesim, Ceulemans Berten, Van Bogaert Patrick, Pou-Serradell Adolf, Bernert Günther, Dinopoulos Argirios, Auer-Grumbach Michaela, Sallinen Satu-Leena, Fabrizi Gian Maria, Pauly Fernand, Van den Bergh Peter, Bilir Birdal, Battaloglu Esra, Madrid Ricardo E, Kabzińska Dagmara, Kochanski Andrzej, Topaloglu Haluk, Miller Geoffrey, Jordanova Albena, Timmerman Vincent, De Jonghe Peter
Abstract excerpt
Early onset hereditary motor and sensory neuropathies are rare disorders encompassing congenital hypomyelinating neuropathy with disease onset in the direct post-natal period and Dejerine-Sottas neuropathy starting in infancy. The clinical spectrum, however, reaches beyond the boundaries of these two historically defined disease entities. De novo dominant mutations in PMP22, MPZ and EGR2 are known to be a typical...
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