Article
Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 May 2014
Okamoto Yuji, Goksungur Meryem Tuba, Pehlivan Davut, Beck Christine R, Gonzaga-Jauregui Claudia, Muzny Donna M, Atik Mehmed M, Carvalho Claudia M B, Matur Zeliha, Bayraktar Serife, Boone Philip M, Akyuz Kaya, Gibbs Richard A, Battaloglu Esra, Parman Yesim, Lupski James R
Abstract excerpt
PURPOSE: Copy-number variations as a mutational mechanism contribute significantly to human disease. Approximately one-half of the patients with Charcot-Marie-Tooth (CMT) disease have a 1.4 Mb duplication copy-number variation as the cause of their neuropathy. However, non-CMT1A neuropathy patients rarely have causative copy-number variations, and to date, autosomal-recessive disease has not been associated with...
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