Journal article
Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect
Yiran Guo, Minal J Menezes, Manoj P Menezes, Jinlong Liang, Dong Li, Lisa G Riley, Nigel F Clarke, P Ian Andrews, Lifeng Tian, Richard Webster, Fengxiang Wang, Xuanzhu Liu, Yulan Shen, David R Thorburn, Brendan J Keating, Andrew Engel, Hakon Hakonarson, John Christodoulou, Xun Xu
Neuromuscular Disorders | PERGAMON-ELSEVIER SCIENCE LTD | Published : 2015
Grants
Awarded by Australian NHMRC
Awarded by NHMRC Principal Research Fellowship
Awarded by NIH
Awarded by Shenzhen Municipal Government of China
Funding Acknowledgements
We thank Simone Tregoning and Wendy Salter, Murdoch Childrens Research Institute, Melbourne, for enzyme assays and Rachael Duff from the West Australian Institute for Medical Research, Perth, for undertaking the mtDNA sequencing in patient 1.This research was supported by Australian NHMRC grant 1026891 to J.C., an NHMRC Principal Research Fellowship (number 1022896) to D.R.T and an Australian Mitochondrial Disease Foundation (AMDF) PhD Scholarship to M.J.M, an NIH Research Grant NS6277 to A.G.E, and a Research Grant from the Shenzhen Municipal Government of China (NO.CXZZ20130517144604091) to X.X. We would also like to acknowledge the Institutional Development Funds to Dr. Hakon Hakonarson in the Center for Applied Genomics (CAG) at the Children's Hospital of Philadelphia (CHOP). We also gratefully acknowledge donations to J.C. by the Crane and Perkins families