| Literature DB >> 11743579 |
Rachel V Baxter1, 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.
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.Entities:
Mesh：
Substances：
Year: 2001 PMID： 11743579 DOI： 10.1038/ng796
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330