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Episodic weakness and Charcot-marie-tooth disease due to a mitochondrial MT-ATP6 mutation.

Muscle & nerve - 1 Jun 2017

Panosyan Francis B, Tawil Rabi, Herrmann David N

Abstract excerpt

INTRODUCTION: Episodic muscle weakness is the hallmark of a heterogeneous group of disorders known as periodic paralysis. A majority are due to single nucleotide mutations causing membrane depolarization. METHODS: We report 2 family members with chronic, slowly progressive, distal axonal neuropathy, or Charcot-Marie-Tooth disease type 2 (CMT2) and episodic weakness resembling periodic paralysis. RESULTS: Next...

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PMID: 27783406
DOI: 10.1002/mus.25453

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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