A new locus for X-linked dominant CharcotMarieTooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene
Marina L Kennerson, Eppie M Yiu, David T Chuang, Aditi Kidambi, Shih-Chia Tso, Carolyn Ly, Rabia Chaudhry, Alexander P Drew, Gary Rance, Martin B Delatycki, Stephan Zuechner, Monique M Ryan, Garth A Nicholson
Human Molecular Genetics | OXFORD UNIV PRESS | Published : 2013
Awarded by National Health and Medical Research Council (NHMRC)
Awarded by NHMRC under The Centres of Research Excellence scheme
Awarded by National Institutes of Health
Awarded by Welch Foundation
This work is supported by the National Health and Medical Research Council (NHMRC) Project Grant APP1007705 awarded to G.A.N. and M.L.K. E.M.Y. is supported by a NHMRC Biomedical Postgraduate Research Scholarship. M.M.R. receives grant support from NHMRC under The Centres of Research Excellence scheme (APP1031893). The Murdoch Childrens Research Institute is supported by the Victorian Government's Operational Infrastructure Support Program. D.T.C. is supported by the National Institutes of Health Grants DK62306, DK26758 and DK92921, and the Welch Foundation Grant I-1286.