The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy

Tarih
2016
Yazar
Muzny, Donna M.
Goksungur, Meryem Tuba
Lupski, James R.
Sereda, Michael W.
Rautenstrauss, Bernd
Withers, Marjorie A.
Carvalho, Claudia M. B.
Czesnik, Dirk
Gonzaga-Jauregui, Claudia
Wiszniewski, Wojciech
Gibbs, Richard A.
Beck, Christine R.
Okamoto, Yuji
Harel, Tamar
Akdemir, Zeynep H. C.
Jhangiani, Shalini N.
Pehlivan, Davut
Üst veri
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Özet
Purpose: Charcot-Marie-Tooth (CMT) disease is a heterogeneous group of genetic disorders of the peripheral nervous system. Copy-number variants (CNVs) contribute significantly to CMT, as duplication of PMP22 underlies the majority of CMT1 cases. We hypothesized that CNVs and/or single-nucleotide variants (SNVs) might exist in patients with CMT with an unknown molecular genetic etiology.
Bağlantı
http://hdl.handle.net/20.500.12627/77411
https://doi.org/10.1038/gim.2015.124
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