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
2000
The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein
Pusch C, Zeitz C, Brandau O, Pesch K, Achatz H, Feil S, Scharfe C, Maurer J, Jacobi F, Pinckers A, Andreasson S, Hardcastle A, Wissinger B, Berger W, Meindl A. The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein. Nature Genetics 2000, 26: 324-327. PMID: 11062472, DOI: 10.1038/81627.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid MotifsAmino Acid SequenceBrainChromosome MappingDNA Mutational AnalysisDNA, ComplementaryElectroretinographyEye ProteinsFemaleGene Expression ProfilingGenesGenetic HeterogeneityGenetic MarkersGlycosylphosphatidylinositolsHumansKidneyLeucineMaleModels, MolecularMolecular Sequence DataMultigene FamilyMuscle ProteinsMusclesNerve Tissue ProteinsNight BlindnessOrgan SpecificityPedigreeProtein ConformationProteoglycansRepetitive Sequences, Amino AcidRetinaReverse Transcriptase Polymerase Chain ReactionSequence DeletionSequence Homology, Amino AcidTestisX ChromosomeConceptsLeucine-rich repeatsLeucine-rich repeat proteinFuture functional analysisProtein-protein interactionsCell-cell contactProximal short armCongenital stationary night blindnessGenetic mappingNew genesX chromosome2Repeat proteinsExtracellular proteinsLinkage intervalFunctional analysisStationary night blindnessDifferent lociShort armCell adhesionAmino acidsGenesCSNB1 locusProteinDifferent mutationsLociMutation analysis