A novel variant m.8561C>T in the overlapping region of MT-ATP6 and MT-ATP8 in a child with early-onset severe neurological signs
Among mitochondrial diseases, isolated complex V (CV) deficiency represents a rare cause of respiratory chain (RC) dysfunction. In mammalian mitochondrial DNA (mtDNA), MT-ATP6 partly overlaps with MT-ATP8 making double mutations possible, yet extremely rarely reported principally in patients with ca...
Main Authors: | Konstantina Fragaki, Annabelle Chaussenot, Valerie Serre, Cecile Acquaviva, Sylvie Bannwarth, Cecile Rouzier, Brigitte Chabrol, Veronique Paquis-Flucklinger |
---|---|
Format: | Article |
Language: | English |
Published: |
Elsevier
2019-12-01
|
Series: | Molecular Genetics and Metabolism Reports |
Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426919301600 |
Similar Items
-
Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases
by: Morgane Plutino, et al.
Published: (2018-04-01) -
Coenzyme Q10 defects may be associated with a deficiency of Q10-independent mitochondrial respiratory chain complexes
by: Konstantina Fragaki, et al. -
Epilepsy in MT‐ATP6 ‐ related mils/NARP: correlation of elettroclinical features with heteroplasmy
by: Laura Licchetta, et al.
Published: (2021-03-01) -
Multi-Omics Approaches to Improve Mitochondrial Disease Diagnosis: Challenges, Advances, and Perspectives
by: Justine Labory, et al.
Published: (2020-11-01) -
Reversible Valproate-Induced Subacute Encephalopathy Associated With a MT-ATP8 Variant in the Mitochondrial Genome
by: Giovanna De Michele, et al.
Published: (2018-08-01)