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New study: Unique post-exercise electrophysiological test results in a new Andersen-Tawil syndrome mutation.

Does anyone have access to this article? At least share an abstract?
http://www.ncbi.nlm.nih.gov/pubmed/21640645

Clin Neurophysiol. 2011 Dec;122(12):2537-9. doi: 10.1016/j.clinph.2011.04.025.
Epub 2011 Jun 2.
Unique post-exercise electrophysiological test results in a new Andersen-Tawil syndrome mutation.
Díaz-Manera J, Querol L, Clarimón J, Yagüe S, Illa I.
PMID: 21640645 [PubMed - indexed for MEDLINE]

Abstract is below. Let me know your e-mail address, and I will forward you a PDF of the full article.

Andersen–Tawil syndrome (ATS) is a rare autosomal dominant disorder that commonly produces a triad of symptoms: dysmorphic features, periodic paralysis (PP) and cardiac dysrhythmia. In almost 60% of patients the disease is caused by mutations in the gene KCNJ2, which encodes the inward rectifier potassium channel Kir2.1.

Primary PPs are inherited muscular disorders caused by mutations in the muscular sodium, calcium or potassium channels. Due to the striking similarities in their clinical features, it is difficult to make a prediction of which ion channel could be altered in a particular patient. Post-exercise electrophysiological tests can be helpful because different patterns of the compound muscle action potentials (CMAP) changes over time correlate with specific channel mutations (Fournier et al., 2004). However literature describing these tests in ATS patients is scarce (Bendahhou et al., 2005). In this report we present two ATS patients, one of them with a new mutation in the KJN2 gene, and describe their response to the exercise test.