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. 2002 Jan;30(1):21-2.
doi: 10.1038/ng796. Epub 2001 Dec 17.

Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21

Rachel V Baxter  1 , Kamel Ben Othmane, Julie M Rochelle, Jason E Stajich, Christine Hulette, Susan Dew-Knight, Faycal Hentati, Mongi Ben Hamida, S Bel, Judy E Stenger, John R Gilbert, Margaret A Pericak-Vance, Jeffery M Vance
Affiliations

Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21

Rachel V Baxter et al. Nat Genet. 2002 Jan.

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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