Work

Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect

Year: 2014

Type: article

Study design: Case Report

Source: Neuromuscular Disorders

DOI: 10.1016/j.nmd.2014.11.017

Authors: 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

Institutions: Children's Hospital of Philadelphia, The University of Sydney, Children's Hospital at Westmead, Sydney Children's Hospital, Westmead Hospital, BGI Group (China), Royal Children's Hospital, The University of Melbourne, Victorian Clinical Genetics Services, Murdoch Children's Research Institute, University of Pittsburgh, University of Pennsylvania, Mayo Clinic, BGI Genomics

Language: English

Topic: Myasthenia Gravis and Thymoma

Subfield: Clinical Neurology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: green

Funders: Australian Mitochondrial Disease Foundation, National Institutes of Health, National Institute of Neurological Disorders and Stroke, Eunice Kennedy Shriver National Institute of Child Health and Human Development

Awards: G1469461127, The Intellectual and Developmental Disabilities Research Center at CHOP/Penn, Congenital Myasthenic Syndromes, G6108617645, Congenital Myasthenic Syndromes

OpenAlex ID: W2067902510

FWCI: 0.646

Cites: 30

Cited by: 19

Related to: 10