The polynucleotide kinase 3'-phosphatase gene (PNKP) is involved in Charcot-Marie-Tooth disease (CMT2B2) previously related to MED25.

Publication Year: 2018

DOI:
10.1007/s10048-018-0555-7

PMCID:
PMC6280876

PMID:
30039206

Journal Information

Full Title: Neurogenetics

Abbreviation: Neurogenetics

Country: Unknown

Publisher: Unknown

Language: N/A

Publication Details

Subject Category: Neurology

Available in Europe PMC: Yes

Available in PMC: Yes

PDF Available: No

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Evidence found in paper:

"We thank the patients and other family members for their cooperation in this study and Dr. Carolina Céspedes for the technical assistance. Support from the University of Costa Rica is gratefully acknowledged (project 111-B2-372). We dedicate this paper in memory of Prof. Bernd Rautenstrauß, who initiated this study 20 years ago and sadly passed away in 2015."

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Last Updated: Aug 05, 2025