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Titel:

MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalities.

Dokumenttyp:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
Autor(en):
Baertling, Fabian; Haack, Tobias B; Rodenburg, Richard J; Schaper, Jörg; Seibt, Annette; Strom, Tim M; Meitinger, Thomas; Mayatepek, Ertan; Hadzik, Berit; Selcan, Gündüz; Prokisch, Holger; Distelmaier, Felix
Abstract:
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...     »
Zeitschriftentitel:
Neurogenetics
Jahr:
2015
Band / Volume:
16
Heft / Issue:
3
Seitenangaben Beitrag:
237-40
Sprache:
eng
Volltext / DOI:
doi:10.1007/s10048-015-0440-6
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/25663021
Print-ISSN:
1364-6745
TUM Einrichtung:
Institut für Humangenetik
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