User: Guest  Login
Title:

LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study.

Document type:
Journal Article; Article
Author(s):
Hempel, Maja; Kremer, Laura S; Tsiakas, Konstantinos; Alhaddad, Bader; Haack, Tobias B; Löbel, Ulrike; Feichtinger, René G; Sperl, Wolfgang; Prokisch, Holger; Mayr, Johannes A; Santer, René
Abstract:
LYRM7 is involved in the last steps of mitochondrial complex III assembly where it acts as a chaperone for the Rieske iron-sulfur (Fe-S) protein in the mitochondrial matrix. Using exome sequencing, we identified homozygosity for a splice site destroying 4 base pair deletion in LYRM7 in a child with recurrent lactic acidotic crises and distinct early-onset leukencephalopathy. Sanger sequencing showed variant segregation in similarly affected family members. Functional analyses revealed a reduced...     »
Journal title abbreviation:
Mitochondrion
Year:
2017
Journal volume:
37
Pages contribution:
55-61
Language:
eng
Fulltext / DOI:
doi:10.1016/j.mito.2017.07.001
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/28694194
Print-ISSN:
1567-7249
TUM Institution:
Institut für Humangenetik
 BibTeX