{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,3]],"date-time":"2026-03-03T18:52:32Z","timestamp":1772563952189,"version":"3.50.1"},"reference-count":39,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2017,2,12]],"date-time":"2017-02-12T00:00:00Z","timestamp":1486857600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2017,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We report 2 family members with chronic, slowly progressive, distal axonal neuropathy, or Charcot\u2013Marie\u2013Tooth disease type 2 (CMT2) and episodic weakness resembling periodic paralysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Next generation sequencing (NGS) identified a mitochondrial <jats:italic>MT\u2010ATP6<\/jats:italic> mutation m.9185T&gt;C (p.Leu220Pro) in both patients, consistent with a previous report of an association with this phenotype. The episodic weakness has been responsive to acetazolamide therapy for a few decades. By contrast, the underlying axonal neuropathy is quite progressive despite treatment with acetazolamide.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Mitochondrial DNA mutations should be considered in patients with a history of episodic weakness and axonal inherited neuropathy (CMT2). The episodic weakness is responsive to acetazolamide therapy, and electrophysiological testing for periodic paralysis with a long exercise protocol is negative in these cases. <jats:italic>Muscle Nerve<\/jats:italic> <jats:bold>55<\/jats:bold>: 922\u2013927, 2017<\/jats:p><\/jats:sec>","DOI":"10.1002\/mus.25453","type":"journal-article","created":{"date-parts":[[2017,2,12]],"date-time":"2017-02-12T18:02:45Z","timestamp":1486922565000},"page":"922-927","source":"Crossref","is-referenced-by-count":14,"title":["Episodic weakness and Charcot\u2013marie\u2013tooth disease due to a mitochondrial <i>MT\u2010ATP6<\/i> mutation"],"prefix":"10.1002","volume":"55","author":[{"given":"Francis B.","family":"Panosyan","sequence":"first","affiliation":[{"name":"Department of Neurology University of Rochester Medical Center Box 673, 601 Elmwood Avenue Rochester New York 14642 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