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.
- 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
- January 2002
Volume / Issue
- 30 / 1
Start / End Page
- 21 - 22
International Standard Serial Number (ISSN)
Digital Object Identifier (DOI)
- United States