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Neuromuscular junction abnormalities in mitochondrial disease; an observational cohort study

Lookup NU author(s): Dr Luis Braz, Dr Yi NgORCiD, Professor Grainne Gorman, Professor Bobby McFarlandORCiD, Professor Robert Taylor, Emeritus Professor Doug Turnbull, Professor Roger Whittaker



This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).


Objective; To determine the prevalence of neuromuscular junction (NMJ) abnormalities in patients with mitochondrial disease. Methods; 80 patients with genetically-proven mitochondrial disease were recruited from a national centre for mitochondrial disease in the UK. Participants underwent detailed clinical and neurophysiological testing including single fibre electromyography. Results; The overall prevalence of neuromuscular transmission defects was 25.6%. The highest prevalence was in patients with pathogenic dominant RRM2B variants (50%) but abnormalities were found in a wide range of mitochondrial genotypes. The presence of NMJ abnormalities was strongly associated with co-existent myopathy, but not with neuropathy. Furthermore, 15% of patients with NMJ abnormality had no evidence of either myopathy or neuropathy. Conclusions; NMJ transmission defects are common in mitochondrial disease. In some patients, NMJ dysfunction occurs in the absence of obvious pre- or post-synaptic pathology, suggesting that the NMJ may be specifically affected.

Publication metadata

Author(s): Braz LP, Ng YS, Gorman GS, Schafer AM, McFarland R, Taylor RW, Turnbull DM, Whittaker RG

Publication type: Article

Publication status: Published

Journal: Neurology Clinical Practice

Year: 2019

Pages: ePub ahead of Print

Online publication date: 26/12/2019

Acceptance date: 19/11/2019

Date deposited: 20/11/2019

ISSN (print): 2163-0402

ISSN (electronic): 2163-0933

Publisher: Lippincott Williams & Wilkins


DOI: 10.1212/CPJ.0000000000000795


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Funder referenceFunder name
203105/Z/16/ZWellcome Trust