Article
Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.
Cell reports - 18 Aug 2015
Gonzaga-Jauregui Claudia, Harel Tamar, Gambin Tomasz, Kousi Maria, Griffin Laurie B, Francescatto Ludmila, Ozes Burcak, Karaca Ender, Jhangiani Shalini N, Bainbridge Matthew N, Lawson Kim S, Pehlivan Davut, Okamoto Yuji, Withers Marjorie, Mancias Pedro, Slavotinek Anne, Reitnauer Pamela J, Goksungur Meryem T, Shy Michael, Crawford Thomas O, Koenig Michel, Willer Jason, Flores Brittany N, Pediaditrakis Igor, Us Onder, Wiszniewski Wojciech, Parman Yesim, Antonellis Anthony, Muzny Donna M, Katsanis Nicholas, Battaloglu Esra, Boerwinkle Eric, Gibbs Richard A, Lupski James R
Abstract excerpt
Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous distal symmetric polyneuropathy. Whole-exome sequencing (WES) of 40 individuals from 37 unrelated families with CMT-like peripheral neuropathy refractory to molecular diagnosis identified apparent causal mutations in ∼ 45% (17/37) of families. Three candidate disease genes are proposed, supported by a combination of genetic and in...
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