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Article

Episodic weakness and axonal sensorimotor neuropathy caused by a mitochondrial MT-ATP6 mutation.

Journal of the Formosan Medical Association = Taiwan yi zhi - 1 Nov 2022

Su Tzu-Hsuan, Lee Ni-Chung, Wu Chao-Szu, Peng Steven Shinn-Forng, Fan Pi-Chuan

Abstract excerpt

Episodic weakness is typically associated with a group of disorders so called periodic paralyses. Their major causes are mutation of ion channels, and have rarely been linked to mitochondrial disorders. We report a 20-year-old man with episodic weakness and axonal sensorimotor neuropathy since the age of 10 years. Analysis of the next generation sequencing data of the entire mitochondrial genome extracted from...

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PMID: 34953645
DOI: 10.1016/j.jfma.2021.12.003

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