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A Sodium Channel Myotonia Presenting with Intermittent Dysphagia as a Manifestation of a Rare SCN4A Variant.
J Mol Neurosci. 2017 Mar;61(3):312-314
Authors: Benhammou JN, Phan J, Lee H, Ghassemi K, Parsons W, Grody WW, Pisegna JR
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.
PMID: 28012096 [PubMed - indexed for MEDLINE]
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