Article
Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.
Journal of neurochemistry - 1 Dec 2017
Dohrn Maike F, Glöckle Nicola, Mulahasanovic Lejla, Heller Corina, Mohr Julia, Bauer Christine, Riesch Erik, Becker Andrea, Battke Florian, Hörtnagel Konstanze, Hornemann Thorsten, Suriyanarayanan Saranya, Blankenburg Markus, Schulz Jörg B, Claeys Kristl G, Gess Burkhard, Katona Istvan, Ferbert Andreas, Vittore Debora, Grimm Alexander, Wolking Stefan, Schöls Ludger, Lerche Holger, Korenke G Christoph, Fischer Dirk, Schrank Bertold, Kotzaeridou Urania, Kurlemann Gerhard, Dräger Bianca, Schirmacher Anja, Young Peter, Schlotter-Weigel Beate, Biskup Saskia
Abstract excerpt
Hereditary neuropathies comprise a wide variety of chronic diseases associated to more than 80 genes identified to date. We herein examined 612 index patients with either a Charcot-Marie-Tooth phenotype, hereditary sensory neuropathy, familial amyloid neuropathy, or small fiber neuropathy using a customized multigene panel based on the next generation sequencing technique. In 121 cases (19.8%), we identified at...
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