Benutzer: Gast  Login
Titel:

Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis.

Dokumenttyp:
Journal Article; Research Support, Non-U.S. Gov't
Autor(en):
Ghezzi, D; Baruffini, E; Haack, TB; Invernizzi, F; Melchionda, L; Dallabona, C; Strom, TM; Parini, R; Burlina, AB; Meitinger, T; Prokisch, H; Ferrero, I; Zeviani, M
Abstract:
Dysfunction of mitochondrial respiration is an increasingly recognized cause of isolated hypertrophic cardiomyopathy. To gain insight into the genetic origin of this condition, we used next-generation exome sequencing to identify mutations in MTO1, which encodes mitochondrial translation optimization 1. Two affected siblings carried a maternal c.1858dup (p.Arg620Lysfs(*)8) frameshift and a paternal c.1282G>A (p.Ala428Thr) missense mutation. A third unrelated individual was homozygous for the lat...     »
Zeitschriftentitel:
Am J Hum Genet
Jahr:
2012
Band / Volume:
90
Heft / Issue:
6
Seitenangaben Beitrag:
1079-87
Sprache:
eng
Volltext / DOI:
doi:10.1016/j.ajhg.2012.04.011
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/22608499
Print-ISSN:
0002-9297
TUM Einrichtung:
Institut für Humangenetik
 BibTeX