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

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.
AuthorsJihane N Benhammou, Jennifer Phan, Hane Lee, Kevin Ghassemi, William Parsons, Wayne W Grody, Joseph R Pisegna
JournalJournal of molecular neuroscience : MN (J Mol Neurosci) Vol. 61 Issue 3 Pg. 312-314 (Mar 2017) ISSN: 1559-1166 [Electronic] United States
PMID28012096 (Publication Type: Case Reports, Journal Article)
Chemical References
  • NAV1.4 Voltage-Gated Sodium Channel
  • SCN4A protein, human
  • Potassium
Topics
  • Deglutition Disorders (diagnosis, genetics)
  • Female
  • Humans
  • Middle Aged
  • Muscle, Skeletal (metabolism, physiopathology)
  • Mutation, Missense
  • Myotonia (diagnosis, genetics)
  • NAV1.4 Voltage-Gated Sodium Channel (genetics)
  • Potassium (metabolism)
  • Syndrome

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