Home > Education > Recorded education > Grand Rounds > JHCH Paediatric > 2023

Multi-omics approach to make a new diagnosis: Oh! How cool is mitochondria!!

11 April 2023

Dr Himanshu Goel-Clinical Genetics Staff Specialist

UpToDate logoMitochondrial disorders: Treatment

CIAP logo Morava E, van den Heuvel L, Hol F, de Vries MC, Hogeveen M, Rodenburg RJ, et al. Mitochondrial disease criteria: diagnostic applications in children. Neurology. 2006 Nov 28;67(10):1823-6. PubMed PMID: 17130416. eng.

Open access logo Witters P, Saada A, Honzik T, Tesarova M, Kleinle S, Horvath R, et al. Revisiting mitochondrial diagnostic criteria in the new era of genomics. Genet Med. 2018 Apr;20(4):444-51. PubMed PMID: 29261183. Epub 20171026. eng.

Open access logo Van Haute L, O'Connor E, Díaz-Maldonado H, Munro B, Polavarapu K, Hock DH, et al. TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease. Nat Commun. 2023 Feb 23;14(1):1009. PubMed PMID: 36823193. PMCID: PMC9950373. Epub 20230223. eng.

Back