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Periodic paralysis mutation MiRP2-R83H in controls: Interpretations and general recommendation.
Department of Applied Physiology, Ulm University, Germany.
An R83H point mutation in KCNE3-encoded MiRP2 has been reported to cause 2% of all cases of familial periodic paralysis. The authors found MiRP2-R83H in 3 of 321 control subjects and in 5 unaffected related individuals. Provocation of an unaffected carrier with glucose or KCl did not induce weakness. The authors propose that causality criteria for mutations require exclusion of mutations in n = ln(P)/ln(1 - p(1)) ethnically matched control chromosomes (P = acceptable error probability; p(1) = mutation prevalence in patient chromosomes).
PMID: 15037716 [PubMed - indexed for MEDLINE]
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Cited by 3 PubMed Central articles
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Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes.
Piluso G, Politano L, Aurino S, Fanin M, Ricci E, Ventriglia VM, Belsito A, Totaro A, Saccone V, Topaloglu H, et al.
J Med Genet. 2005 Sep; 42(9):686-93.
[J Med Genet. 2005]
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ReviewMuscle channelopathies and critical points in functional and genetic studies.
Jurkat-Rott K, Lehmann-Horn F.
J Clin Invest. 2005 Aug; 115(8):2000-9.
[J Clin Invest. 2005]
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Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a Chinese family.
Wang Q, Liu M, Xu C, Tang Z, Liao Y, Du R, Li W, Wu X, Wang X, Liu P, et al.
J Mol Med. 2005 Mar; 83(3):203-8. Epub 2005 Feb 22.
[J Mol Med. 2005]
Patient Drug Information
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Potassium (Glu-K® , K+ 10® , K+ 8® , ...)
Potassium is essential for the proper functioning of the heart, kidneys, muscles, nerves, and digestive system. Usually the food you eat supplies all of the potassium you need. However, certain diseases (e.g., kidney dis...