Results Of PMP22 Gene Deletion and Duplication Analysis in 100 Patients with Hereditary Neuropathy
References
- Hung CC, Lee CN, Lin CY, et al. Identification of deletion and duplication genotypes of the PMP22 gene using PCR-RFLP, competitive multiplex PCR, and multiplex ligation-dependent probe amplification: a comparison. Electrophoresis. 2008;29(3):618–625.
- Stangler Herodez S, Zagradisnik B, Erjavec Skerget A, Zagorac A, Kokalj Vokac N. Molecular diagnosis of PMP22 gene duplications and deletions: comparison of different methods. J Int Med Res. 2009;37(5):1626–1631.
- Lin CY, Su YN, Lee CN, et al. A rapid and reliable detection system for the analysis of PMP22 gene dosage by MP/DHPLC assay. J Hum Genet. 2006;51(3):227–235.
- Jung NY, Kwon HM, Nam DE, et al. Peripheral myelin protein 22 gene mutations in Charcot-Marie-Tooth disease type 1E patients. Genes (Basel). 2022;13(7):1219.
- Khadilkar SV, Yadav RS, Patel BA. Hereditary motor sensory neuropathies (HMSN)/Charcot-Marie-Tooth disease (CMT). In: Neuromuscular Disorders: A Comprehensive Review with Illustrative Cases. Singapore: Springer Nature; 2024:661–688.
- Matsuda N, Ootsuki K, Kobayashi S, et al. A novel case of concurrent occurrence of demyelinating polyneuropathy-causing PMP22 duplication and SOX10 gene mutation producing severe hypertrophic neuropathy. BMC Neurol. 2021;21(1):243.
- Prior R, Silva A, Vangansewinkel T, et al. PMP22 duplication dysregulates lipid homeostasis and plasma membrane organization in developing human Schwann cells. Brain. 2024;147(5):awae158.
- Pareyson D, Saveri P, Pisciotta C. New developments in Charcot-Marie-Tooth neuropathy and related diseases. Curr Opin Neurol. 2017;30(5):471–480.
- Saporta AS, Sottile SL, Miller LJ, et al. Charcot-Marie-Tooth disease subtypes and genetic testing strategies. Ann Neurol. 2011;69(1):22–33.
- Li J, Parker B, Martyn C, Natarajan C, Guo J. The PMP22 gene and its related diseases. Mol Neurobiol. 2013 Apr;47(2):673–98.
- Parmar JM, Laing NG, Kennerson ML, Ravenscroft G. Genetics of inherited peripheral neuropathies and the next frontier: looking backwards to progress forwards. J Neurol Neurosurg Psychiatry. 2024.
- Vervoort L, Vermeesch JR. Low copy repeats in the genome: from neglected to respected. Explor Med. 2023.
DOI: https://doi.org/10.2478/bjmg-2026-0010 | Journal eISSN: 2199-5761 (formerly 1311-0160) | Journal ISSN: 1311-0160
Language: English
Page range: 51 - 54
Published on: Oct 14, 2026
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Keywords:
Related subjects:
© 2026 SG Ergün, EF Perçin, MA Ergün, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution 4.0 License.