A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiency

Mitochondrial disorders are a heterogeneous group of rare, degenerative multisystem disorders affecting the cell's core bioenergetic and signalling functions. Spontaneous improvement is rare. We describe a novel neonatal-onset mitochondriopathy in three infants with failure to thrive, hyperlact...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	European journal of human genetics : EJHG 2021-11, Vol.29 (11), p.1719-1724
Hauptverfasser:	Lines, Matthew A, Cuillerier, Alexanne, Chakraborty, Pranesh, Naas, Turaya, Duque Lasio, M Laura, Michaud, Jean, Pileggi, Chantal, Harper, Mary-Ellen, Burelle, Yan, Toler, Tomi L, Sondheimer, Neal, Crawford, Heather P, Millan, Francisca, Geraghty, Michael T
Format:	Artikel
Sprache:	eng
Schlagworte:	Acidosis Age Anemia Asymptomatic Bioenergetics Biopsy Brief Communication Diarrhea Failure to thrive Fibroblasts Genetics Glycerol Health sciences Hospitals Hyperammonemia Hyperlactatemia Laboratories Medical screening Medicine Metabolism Mitochondria Mitochondrial DNA Neonates Pediatrics Urine
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!