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Loss-of-function mutations in the ClC-1 Cl(-) channel trigger skeletal muscle hyperexcitability in myotonia congenita. For reasons that remain unclear, the severity of the myotonic symptoms can vary markedly even among patients with identical ClC-1 mutations, and may become exacerbated during pregnancy and with diuretic treatment. Since both these(More)
In the early 1990s, several genetically inherited disorders were found to result from trinucleotide repeat expansions (increases in the length of normally short regions of trinucleotide CNG repeats, e.g., CAG, CTG, CCG, and CGG). Huntington's disease (HD; CAG expansions), fragile X syndrome (CGG expansions), fragile XE syndrome (CCG expansions), myotonic(More)
We report a patient with paramyotonia congenita/hyperkalemic periodic paralysis due to Nav1.4 I693T mutation who had worsening of myotonia and muscle weakness in the setting of hypomagnesemia and hypocalcemia with marked recovery after magnesium administration. Computer simulations of the effects of the I693T mutation were introduced in the muscle fiber(More)
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