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

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Baxter, RV; Ben Othmane, K; Rochelle, JM; Stajich, JE; Hulette, C; Dew-Knight, S; Hentati, F; Ben Hamida, M; Bel, S; Stenger, JE; Gilbert, JR; Pericak-Vance, MA; Vance, JM

Published Date

  • January 2002

Published In

Volume / Issue

  • 30 / 1

Start / End Page

  • 21 - 22

PubMed ID

  • 11743579

International Standard Serial Number (ISSN)

  • 1061-4036

Digital Object Identifier (DOI)

  • 10.1038/ng796


  • eng

Conference Location

  • United States