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


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