Missense Mutations in the Rod Domain of the Lamin A/C Gene as Causes of Dilated Cardiomyopathy and Conduction-System Disease
Fatkin D, MacRae C, Sasaki T, Wolff M, Porcu M, Frenneaux M, Atherton J, Vidaillet H, Spudich S, De Girolami U, Seidman JG, Muntoni F, Müehle G, Johnson W, McDonough B, Seidman C. Missense Mutations in the Rod Domain of the Lamin A/C Gene as Causes of Dilated Cardiomyopathy and Conduction-System Disease. New England Journal Of Medicine 1999, 341: 1715-1724. PMID: 10580070, DOI: 10.1056/nejm199912023412302.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAmino Acid SequenceArrhythmias, CardiacCardiomyopathy, DilatedChromosome MappingChromosomes, Human, Pair 1FemaleGenes, DominantGenotypeHumansLamin Type ALaminsMaleMiddle AgedMolecular Sequence DataMuscular Dystrophy, Emery-DreifussMutation, MissenseNuclear ProteinsPedigreeProtein IsoformsSequence Analysis, DNAConceptsConduction system diseaseLamin A/C geneJoint contracturesCardiac conductionEmery-Dreifuss muscular dystrophySerum creatine kinase levelsProgressive conduction system diseaseMuscular dystrophyFamily membersChildhood-onset diseaseCreatine kinase levelsPercent of casesMissense mutationsHeart failureKinase levelsSudden deathNovel missense mutationSkeletal myopathyDiseaseGenetic causeC geneNuclear envelope protein lamin AIntermediate filament proteinsGene defectsGenetic defects