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

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 the blood revealed a homoplasmic m.9185T > C variant in MT-ATP6. Acetazolamide may be responsive for episodic weakness, and supplements with l-carnitine with coenzyme-Q10 seem to be beneficial as well. To the best of our knowledge, this is the first report in Taiwan which reveals episodic weakness and sensorimotor polyneuropathy as a unique phenotype of MT-ATP6 mutations.PMID:34953645 | DOI:10.1016/j.jfma.2021.12.003
Source: J Formos Med Assoc - Category: General Medicine Authors: Source Type: research