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Updated: May 30, 2026

Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons
Published on: January 7, 2019
Charcot-Marie-Tooth caused by a copy number variation in myelin protein zero
Helle Høyer1, Geir J Braathen, Anette K Eek
1Section of Medical Genetics, Department of Laboratory Medicine, Telemark Hospital, Skien, Norway. helle.hoyer@sthf.no
Introduction:
Charcot-Marie-Tooth disease (CMT) is the most common inherited disorder of the peripheral nervous system. The majority has a duplication of the peripheral myelin protein 22. CMT is otherwise caused by point mutations or small insertions/deletions in one of the 44 known CMT genes.
Methods And Results:
Conventional sequencing of six CMT genes were followed by Multiplex Ligation-dependent Probe Amplification (MLPA), array Comparative Genomic Hybridization (aCGH) and breakpoint analysis in a large Norwegian CMT pedigree. Affected had an extra copy of the myelin protein zero (MPZ) gene.
Conclusion:
To our knowledge this is the first non-peripheral myelin protein 22 copy number variation to cause Charcot-Marie-Tooth disease.
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