Myotonia CongenitaChloride ChannelsDent DiseaseKidney CalculiNephrocalcinosisOsteopetrosisRenal Tubular Transport, Inborn ErrorsChannelopathiesNAV1.4 Voltage-Gated Sodium ChannelMyotonic DystrophyMyotoniaPedigreeProteinuriaMutationExonsSexHypophosphatemia, FamilialCodon, NonsenseX ChromosomeInheritance PatternsAlternative SplicingGenetic TestingDNA Mutational AnalysisFrameshift MutationMutation, MissenseNeuronal Ceroid-LipofuscinosesIntronsMice, KnockoutGenes, RecessiveMolecular Sequence DataBase SequenceGenes, DominantGenetic LinkageRetinal DegenerationAmino Acid SequenceXenopusPolymerase Chain ReactionPolymorphism, Single-Stranded ConformationalKidney DiseasesMuscle, SkeletalEpilepsyOsteoclastsJapanDNA PrimersIon TransportRNA SplicingPhenotypeRNA, MessengerGene Expression RegulationOocytesMice, Inbred C57BLAllelesMice, TransgenicGenetic VariationCalciumMembrane ProteinsBlotting, WesternBrain