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

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

Date

2016

Author

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

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Abstract

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.

URI

http://hdl.handle.net/20.500.12627/77411
https://doi.org/10.1038/gim.2015.124

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