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- Title
Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21.
- Authors
Baxter, Rachel V; Ben Othmane, Kamel; Rochelle, Julie M; Stajich, Jason E; Hulette, Christine; Dew-Knight, Susan; Hentati, Faycal; Ben Hamida, Mongi; Bel, S; Stenger, Judy E; Gilbert, John R; Pericak-Vance, Margaret A; Vance, Jeffery M
- 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.
- Publication
Nature genetics, 2002, Vol 30, Issue 1, p21
- ISSN
1061-4036
- Publication type
Journal Article
- DOI
10.1038/ng796