Learning from massive testing of mitochondrial disorders: UPD explaining unorthodox transmission

Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG)

(2020) Daniela del Gaudio et al.   GENETICS IN MEDICINE

Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases

(2020) Jing Tan et al.   EBioMedicine

Genetics of mitochondrial diseases: Identifying mutations to help diagnosis

(2020) Sarah L. Stenton et al.   EBioMedicine

Uniparental isodisomy as a cause of mitochondrial complex I respiratory chain disorder due to a novel splicing NDUFS4 mutation

(2020) Adrián González-Quintana et al.   MOLECULAR GENETICS AND METABOLISM

POLG mutations presenting as CMT

(2019) Jade Phillips et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Severe clinical manifestation of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency associated with two novel mutations: a case report

(2019) Hao Liu et al.   BMC Pediatrics

MitochondrialPITRM1peptidase loss-of-function in childhood cerebellar atrophy

(2018) Yeshaya Langer et al.   JOURNAL OF MEDICAL GENETICS

Reversible Valproate-Induced Subacute Encephalopathy Associated With a MT-ATP8 Variant in the Mitochondrial Genome

(2018) Giovanna De Michele et al.   Frontiers in Neurology