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Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalities.
Neurogenetics 16, 237-240 (2015)
The mitochondrial ribosomes are required for the synthesis of mitochondrial DNA-encoded subunits of the oxidative phosphorylation (OXPHOS) system. Here, we present a neonate with fatal lactic acidosis and combined OXPHOS deficiency caused by a homozygous mutation in MRPS22, a gene encoding a mitochondrial ribosomal small subunit protein. Brain imaging revealed several structural abnormalities, including agenesis of the corpus callosum, multiple periventricular cysts, and suspected intracerebral calcifications. Moreover, echocardiography demonstrated atrial and ventricular septal defects as well as a coronary artery fistula. Our report expands the clinical spectrum of this rare mitochondrial disorder and confirms the severe clinical phenotype associated with this defect.
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Publikationstyp
Artikel: Journalartikel
Dokumenttyp
Wissenschaftlicher Artikel
Schlagwörter
Lactic Acidosis ; Mitochondrial Disease ; Mitochondrial Ribosome ; Oxidative Phosphorylation System; Complex-i; Mitochondrial Disease; Deficiency; Diagnosis
ISSN (print) / ISBN
1364-6745
e-ISSN
1364-6753
Zeitschrift
Neurogenetics
Quellenangaben
Band: 16,
Heft: 3,
Seiten: 237-240
Verlag
Springer
Verlagsort
New York
Nichtpatentliteratur
Publikationen
Begutachtungsstatus
Peer reviewed
Institut(e)
Institute of Human Genetics (IHG)