2013
Novel mutations in the CLCN1 gene of myotonia congenita: 2 case reports.
Lakraj AA, Miller G, Vortmeyer AO, Khokhar B, Nowak RJ, DiCapua DB. Novel mutations in the CLCN1 gene of myotonia congenita: 2 case reports. The Yale Journal Of Biology And Medicine 2013, 86: 101-6. PMID: 23483815, PMCID: PMC3584487.Peer-Reviewed Original ResearchConceptsMyotonia congenitaClinical presentationPatient 1Salient clinical featuresCLCN1 geneSarcolemmal chloride conductanceClinical featuresPatient 2Muscle relaxationMuscle biopsyElectrical myotoniaGenetic testingCLCN1 mutationsCongenitaCommon typeNovel mutationsPatientsChloride conductanceRecessive formUnidentified mutationsMyotoniaGene sequencingPresentationMutationsBiopsy
1995
Molecular cloning of ion transporters: potential clinical implications.
Cano A, Alpern R. Molecular cloning of ion transporters: potential clinical implications. Seminars In Nephrology 1995, 15: 2-8. PMID: 7754253.Peer-Reviewed Original ResearchConceptsIon transportersIntegral membrane proteinsStructure/functionUnderstanding of functionMembrane proteinsMolecular cloningTransporter proteinsHereditary ovalocytosisProteinHyperkalemic periodic paralysisCloningGenetic disordersTransportersMyotonia congenitaMultiple levelsAbnormal structurePotential clinical implicationsPeriodic paralysisEnzymeHereditary spherocytosisRegulationOvalocytosisCystic fibrosisFunction
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