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Title:

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

Document type:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
Author(s):
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...     »
Journal title abbreviation:
Neurogenetics
Year:
2015
Journal volume:
16
Journal issue:
3
Pages contribution:
237-40
Language:
eng
Fulltext / DOI:
doi:10.1007/s10048-015-0440-6
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/25663021
Print-ISSN:
1364-6745
TUM Institution:
Institut für Humangenetik
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