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

Panosyan, Francis B; Tawil, Rabi; Herrmann, David N.
Muscle Nerve; 55(6): 922-927, 2017 06.
Artigo em Inglês | MEDLINE | ID: mdl-27783406


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.


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.


Next generation sequencing (NGS) identified a mitochondrial MT-ATP6 mutation m.9185T>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.


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. Muscle Nerve 55: 922-927, 2017.
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