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Updated: Oct 3, 2026

Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons
Published on: January 7, 2019
Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21
Rachel V Baxter1, Kamel Ben Othmane, Julie M Rochelle
1Center for Human Genetics, Institute of Genomic Sciences and Policy, Research Park Building II Room 105, Box 2903, Duke University Medical Center, Durham, North Carolina 27710, USA.
Abstract:
We previously localized and fine-mapped Charcot Marie Tooth 4A (CMT4A), the autosomal recessive, demyelinating peripheral neuropathy, to chromosome 8. Through additional positional cloning, we have identified a good candidate gene, encoding ganglioside-induced differentiation-associated protein-1 (GDAP1). We found three different mutations in four different Tunisian families-two nonsense and one missense mutation. How mutations in GDAP1 lead to CMT4A remains to be understood.
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