A Sodium Channel Myotonia Presenting with Intermittent Dysphagia as a Manifestation of a Rare SCN4A Variant
- Author(s): Benhammou, JN
- Phan, J
- Lee, H
- Ghassemi, K
- Parsons, W
- Grody, WW
- Pisegna, JR
- et al.
Published Web Locationhttps://doi.org/10.1007/s12031-016-0878-5
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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