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Article

Andersen-Tawil syndrome with early fixed myopathy.

Journal of clinical neuromuscular disease - 1 Dec 2014

Lefter Stela, Hardiman Orla, Costigan Donal, Lynch Bryan, McConville John, Hand Collette K, Ryan Aisling M

Abstract excerpt

Andersen-Tawil syndrome (ATS) is a rare autosomal dominant potassium channelopathy characterized by a triad of periodic paralysis, ventricular arrhythmias, and distinctive dysmorphic abnormalities. We present a 19-year-old man with characteristic skeletal dysmorphic features of ATS, early nonfluctuating proximal lower limb weakness from childhood, and neonatal focal seizures. He later developed fluctuating...

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Source

Identifiers

PMID: 25415519
DOI: 10.1097/CND.0000000000000052

Genes

KCNJ2

Provenance

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