@article{2c2fa477e69d43a695fd11fb7bf16d63,
title = "Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21",
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.",
author = "Baxter, {Rachel V.} and Othmane, {Kamel Ben} and Rochelle, {Julie M.} and Stajich, {Jason E.} and Christine Hulette and Susan Dew-Knight and Faycal Hentati and Hamida, {Mongi Ben} and S. Bel and Stenger, {Judy E.} and Gilbert, {John R.} and Pericak-Vance, {Margaret A.} and Vance, {Jeffery M.}",
note = "Funding Information: This work was supported by grants from the National Institutes of Health. We would like to thank S. Stinnett at GlaxoSmithKline, RTP, for technical assistance in helping construct the shotgun sequence. Copyright: Copyright 2016 Elsevier B.V., All rights reserved.",
year = "2002",
month = jan,
doi = "10.1038/ng796",
language = "English (US)",
volume = "30",
pages = "21--22",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "Nature Publishing Group",
number = "1",
}