Article
Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy.
Brain : a journal of neurology - 1 Jul 2009
Claeys Kristl G, Züchner Stephan, Kennerson Marina, Berciano José, Garcia Antonio, Verhoeven Kristien, Storey Elsdon, Merory John R, Bienfait Henriette M E, Lammens Martin, Nelis Eva, Baets Jonathan, De Vriendt Els, Berneman Zwi N, De Veuster Ilse, Vance Jefferey M, Nicholson Garth, Timmerman Vincent, De Jonghe Peter
Abstract excerpt
Dominant intermediate Charcot-Marie-Tooth neuropathy type B is caused by mutations in dynamin 2. We studied the clinical, haematological, electrophysiological and sural nerve biopsy findings in 34 patients belonging to six unrelated dominant intermediate Charcot-Marie-Tooth neuropathy type B fami...
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