Last Posted: Mar 04, 2021
- The utility of next-generation sequencing technologies in diagnosis of Mendelian mitochondrial diseases and reflections on clinical spectrum.
Kose Melis et al. Journal of pediatric endocrinology & metabolism : JPEM 2021 - Safety of Intravitreal Gene Therapy for Treatment of Subjects with Leber Hereditary Optic Neuropathy due to Mutations in the Mitochondrial ND4 Gene: The REVEAL Study.
Vignal-Clermont Catherine et al. BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapy 2021 Feb - Genetics of mitochondrial diseases: Identifying mutations to help diagnosis.
Stenton Sarah L et al. EBioMedicine 2020 May 56102784 - Clinical Bioinformatics in Precise Diagnosis of Mitochondrial Disease.
Shen Lishuang et al. Clinics in laboratory medicine 2020 Jun 40(2) 149-161 - Resolving complexity in mitochondrial disease: Towards precision medicine.
Boggan Róisín M et al. Molecular genetics and metabolism 128(1-2) 19-29 - The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease.
Riley Lisa G et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Apr - Mitochondrial disease in children.
Rahman Shamima et al. Journal of internal medicine 2020 Mar - Strategies for fighting mitochondrial diseases.
Viscomi Carlo et al. Journal of internal medicine 2020 Feb - Diagnostic and clinical utility of whole genome sequencing in a cohort of undiagnosed Chinese families with rare diseases.
Liu Hong-Yan et al. Scientific reports 2019 Dec 9(1) 19365 - What the Cardiologist Should Know About Mitochondrial Cardiomyopathy?
St-Pierre Guillaume et al. The Canadian journal of cardiology 2019 35(2) 221-224
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Disclaimer: Articles listed in the Public Health Genomics and Precision Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
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- Page last updated:Apr 26, 2021
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