A 36-year-old male with episodes of exercise-induced rhabdomyolysis

The importance of exercise testing and muscle biopsy for mitochondrial myopathies

Authors

  • Avneet Hans, BA University of Texas Southwestern Medical Center, Dallas, Texas
  • Mazen M. Dimachkie, MD The University of Kansas Medical Center, Kansas City, Kansas https://orcid.org/0000-0002-7148-989X
  • Salman Bhai, MD Department of Neurology, University of Texas Southwestern Medical Center, Neuromuscular Center, Institute for Exercise and Environmental Medicine,Texas Health Presbyterian, Dallas, Texas https://orcid.org/0000-0003-4702-9380

DOI:

https://doi.org/10.17161/rrnmf.v3i3.17959

Keywords:

rhabdomyolysis, myopathy, mitochondrial myopathy, metabolic myopathy

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References

Wong LJ. Next generation molecular diagnosis of mitochondrial disorders. Mitochondrion. 2013;13(4):379-387.

Cohen BH. Mitochondrial and Metabolic Myopathies. Continuum (Minneap Minn). 2019;25(6):1732-1766.

Bhai S. Neuromuscular Notes: Diagnosing Metabolic Myopathies. Practical Neurology. 2021;(21):57-61.

Yu-Wai-Man P, Gorman GS, Taylor RW, Turnbull DM. Diagnostic investigations of patients with chronic progressive external ophthalmoplegia. Br J Ophthalmol. 2012;96(12):1536.

Taivassalo T, Jensen TD, Kennaway N, DiMauro S, Vissing J, Haller RG. The spectrum of exercise tolerance in mitochondrial myopathies: a study of 40 patients. Brain. 2003;126(Pt 2):413-423.

McCormick EM, Zolkipli-Cunningham Z, Falk MJ. Mitochondrial disease genetics update: recent insights into the molecular diagnosis and expanding phenotype of primary mitochondrial disease. Curr Opin Pediatr. 2018;30(6):714-724.

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Published

2022-09-26

Issue

Vol. 3 No. 3 (2022)

Section

Clinic and Case Reports

License

Copyright (c) 2022 Avneet Hans, Salman Bhai, Mazen M. Dimachkie

Creative Commons License

This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

How to Cite

Hans, A. ., Dimachkie, M. M. ., & Bhai, S. . (2022). A 36-year-old male with episodes of exercise-induced rhabdomyolysis: The importance of exercise testing and muscle biopsy for mitochondrial myopathies. RRNMF Neuromuscular Journal, 3(3), 29-31. https://doi.org/10.17161/rrnmf.v3i3.17959