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A Sodium Channel Myotonia Presenting with Intermittent Dysphagia as a Manifestation of a Rare SCN4A Variant.

  • Author(s): Benhammou, Jihane N;
  • Phan, Jennifer;
  • Lee, Hane;
  • Ghassemi, Kevin;
  • Parsons, William;
  • Grody, Wayne W;
  • Pisegna, Joseph R
  • et al.
Abstract

The voltage gated sodium channel SCN4A mutations account for non-dystrophic myotonia and include a heterogeneous group of conditions that include hyperkalemic periodic paralysis, paramyotonica congenita, potassium-aggravated myotonia, and hypokalemic periodic paralysis type 2. This case report proposes that a rare variant p.Pro1629Leu in SCN4A can cause a skeletal muscle deficit with intermittent dysphagia.

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