title: Episodic weakness and Charcot-marie-tooth disease due to a mitochondrial MT-ATP6 mutation.
abstract: 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.
authors: Department of Neurology, University of Rochester Medical Center, Box 673, 601 Elmwood Avenue, Rochester, New York, 14642, USA.
authors: Francis B
authors: FB
authors: Panosyan
authors: Department of Neurology, University of Rochester Medical Center, Box 673, 601 Elmwood Avenue, Rochester, New York, 14642, USA.
authors: Rabi
authors: R
authors: Tawil
authors: Department of Neurology, University of Rochester Medical Center, Box 673, 601 Elmwood Avenue, Rochester, New York, 14642, USA.
authors: David N
authors: DN
authors: Herrmann
mesh_terms: D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D005192:Family Health; D005260:Female; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008297:Male; D025261:Mitochondrial Proton-Translocating ATPases / Q000009:adverse effects / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010641:Phenotype
chemical_list: C501005:MT-ATP6 protein, human; D025261:Mitochondrial Proton-Translocating ATPases
keywords: Charcot-Marie-Tooth disease; episodic weakness; inherited neuropathy; mitochondrial ATPase; periodic paralysis