2024
The Australian Genomics Mitochondrial Flagship: A national program delivering mitochondrial diagnoses
Rius R, Compton A, Baker N, Balasubramaniam S, Best S, Bhattacharya K, Boggs K, Boughtwood T, Braithwaite J, Bratkovic D, Bray A, Brion M, Burke J, Casauria S, Chong B, Coman D, Cowie S, Cowley M, de Silva M, Delatycki M, Edwards S, Ellaway C, Fahey M, Finlay K, Fletcher J, Frajman L, Frazier A, Gayevskiy V, Ghaoui R, Goel H, Goranitis I, Haas M, Hock D, Howting D, Jackson M, Kava M, Kemp M, King-Smith S, Lake N, Lamont P, Lee J, Long J, MacShane M, Madelli E, Martin E, Marum J, Mattiske T, McGill J, Metke A, Murray S, Panetta J, Phillips L, Quinn M, Ryan M, Schenscher S, Simons C, Smith N, Stroud D, Tchan M, Tom M, Wallis M, Ware T, Welch A, Wools C, Wu Y, Christodoulou J, Thorburn D. The Australian Genomics Mitochondrial Flagship: A national program delivering mitochondrial diagnoses. Genetics In Medicine 2024, 27: 101271. PMID: 39305161, DOI: 10.1016/j.gim.2024.101271.Peer-Reviewed Original ResearchGenome sequencePhenocopy genesMitochondrial diseaseMtDNA sequencesMtDNA deletionsMD geneMtDNAChildhood-onset diseaseDiagnostic journeyDiagnostic yieldMolecular diagnosisGenesNational studySequenceGene etiologySuspected MDDiagnostic pathwayIncrease diagnostic yieldPediatric-onsetOnset diseaseAdult onsetAdult patientsChildrenSkeletal muscleScores
2019
Mitochondrial DNA depletion in sporadic inclusion body myositis
Bhatt P, Tzoulis C, Balafkan N, Miletic H, Tran G, Sanaker P, Bindoff L. Mitochondrial DNA depletion in sporadic inclusion body myositis. Neuromuscular Disorders 2019, 29: 242-246. PMID: 30850168, DOI: 10.1016/j.nmd.2019.02.001.Peer-Reviewed Original ResearchConceptsMtDNA deletionsCopy numberMeasurement of mtDNA copy numberMitochondrial changesMitochondrial DNA depletionDeletions of mtDNAMtDNA copy numberLevels of mtDNASporadic inclusion body myositisMitochondrial DNAMtDNA abnormalitiesDNA depletionMtDNAMtDNA depletionNecrotising myopathyInclusion body myositisDeletionSporadic inclusion body myositis patientsHealthy controlsQualitative anlysisNo significant differenceInflammatory cellsDNAPatientsSignificant difference
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