2009
Mitochondrial DNA analysis by multiplex denaturing high-performance liquid chromatography and selective sequencing in pediatric patients with cardiomyopathy
Schrijver I, Pique LM, Traynis I, Scharfe C, Sehnert AJ. Mitochondrial DNA analysis by multiplex denaturing high-performance liquid chromatography and selective sequencing in pediatric patients with cardiomyopathy. Genetics In Medicine 2009, 11: 118-126. PMID: 19265752, DOI: 10.1097/gim.0b013e318190356b.Peer-Reviewed Original ResearchConceptsHereditary optic neuropathyPediatric patientsWorse clinical symptomsHigh-performance liquid chromatographyDNA testingLeber's hereditary optic neuropathyIndividual sequence changesMutation analysisNovel heteroplasmic mutationClinical diagnostic useIdiopathic cardiomyopathyRare causeClinical symptomsOptic neuropathyDefinitive diagnosisPediatric cardiomyopathyAdditional functional parametersMultisystemic diseaseCardiomyopathyPathogenic changesUncertain pathogenicityLiquid chromatographyPatientsRespiratory chain activityDiagnostic use
2001
Frequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficiencies
Jaksch M, Kleinle S, Scharfe C, Klopstock T, Pongratz D, Müller-Höcker J, Gerbitz KD, Liechti-Gallati S, Lochmuller H, Horvath R. Frequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficiencies. Journal Of Medical Genetics 2001, 38: 665. PMID: 11584044, PMCID: PMC1734743, DOI: 10.1136/jmg.38.10.665.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultChildChild, PreschoolDNA Mutational AnalysisElectron TransportFemaleGene FrequencyGenetic VariationGenotypeHumansInfantInfant, NewbornMaleMiddle AgedMitochondria, MuscleMitochondrial DiseasesMuscle, SkeletalMutationPhenotypePolymorphism, GeneticRNARNA, MitochondrialRNA, TransferSequence DeletionConceptsMitochondrial transfer RNA (mt-tRNA) mutationsAdult patientsRespiratory chain deficiencyDistinct neurological syndromesChain deficiencyNeonatal groupPediatric groupClinical symptomsNeurological syndromeIndex patientsPathogenic mitochondrial DNA mutationsPatientsPathogenic relevanceMitochondrial DNA mutationsSkeletal musclePathogenic mutationsMuscle DNARNA mutationsMitochondrial disordersG mutationSkeletal muscle DNADeficiencyDetection rateDNA mutationsRC deficiency