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Updated: Jun 9, 2026

Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons
Published on: January 7, 2019
Compound heterozygous PMP22 deletion mutations causing severe Charcot-Marie-Tooth disease type 1
Akiko Abe1, Kazuyuki Nakamura, Mitsuhiro Kato
1Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan.
Abstract:
We present a 3⅓-year-old girl with severe Charcot-Marie-Tooth disease type 1 (Dejerine-Sottas disease), who was a compound heterozygote carrying a deletion of the whole peripheral myelin protein 22 (PMP22) and a deletion of exon 5 in the other PMP22 allele. Haplotype analyses and sequence determination revealed a 11.2 kb deletion spanning from intron 4 to 3'-region of PMP22, which was likely generated by nonhomologous end joining. Severely affected patients carrying a PMP22 deletion must be analyzed for the mutations of the other copy of PMP22.
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