New Channelopathies

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Three metabolic disorders caused by channel mutations have been described: a renal Fanconi syndrome with mutations in NaPi-IIa causing impaired renal phosphate reabsorption (Magen et al., 2010, N Engl J Med 362:1102-09). ATP7A, encoding a copper transporter causing Menkes disease and occipital horn syndrome, can also be the cause of X-Linked Distal Hereditary Motor Neuropathy (Kennerson et al., 2010, Am J Hum Genet 86:343-52). Also, a susceptibility to thyrotoxic hypokaliemic paralysis can be caused by mutations in potassium channel Kir2.6 (Ryan et al., 2010, Cell 140:88-98).

Posted by Philippe Campeau, MD

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