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Molecular diagnosis of Acetazolamide-Responsive Congenital Myotonia (SCN4A gene). Sectie Genoomdiagnostiek Genome Diagnostics Nijmegen Afdeling. Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis. Neurology 1994. | ||||||
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