Article
The genetic landscape of axonal neuropathies in the middle-aged and elderly: Focus on MME.
Neurology - 15 Dec 2020
Senderek Jan, Lassuthova Petra, Kabzińska Dagmara, Abreu Lisa, Baets Jonathan, Beetz Christian, Braathen Geir J, Brenner David, Dalton Joline, Dankwa Lois, Deconinck Tine, De Jonghe Peter, Dräger Bianca, Eggermann Katja, Ellis Melina, Fischer Carina, Stojkovic Tanya, Herrmann David N, Horvath Rita, Høyer Helle, Iglseder Stephan, Kennerson Marina, Kinslechner Katharina, Kohler Jennefer N, Kurth Ingo, Laing Nigel G, Lamont Phillipa J, Wolfgang N Löscher, Ludolph Albert, Marques Wilson, Nicholson Garth, Ong Royston, Petri Susanne, Ravenscroft Gianina, Rebelo Adriana, Ricci Giulia, Rudnik-Schöneborn Sabine, Schirmacher Anja, Schlotter-Weigel Beate, Schoels Ludger, Schüle Rebecca, Synofzik Matthis, Francou Bruno, Strom Tim M, Wagner Johannes, Walk David, Wanschitz Julia, Weinmann Daniela, Weishaupt Jochen, Wiessner Manuela, Windhager Reinhard, Young Peter, Züchner Stephan, Toegel Stefan, Seeman Pavel, Kochański Andrzej, Auer-Grumbach Michaela
Abstract excerpt
OBJECTIVE: To test the hypothesis that monogenic neuropathies such as Charcot-Marie-Tooth disease (CMT) contribute to frequent but often unexplained neuropathies in the elderly, we performed genetic analysis of 230 patients with unexplained axonal neuropathies and disease onset ≥35 years. METHODS: We recruited patients, collected clinical data, and conducted whole-exome sequencing (WES; n = 126) and MME...
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