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Hempel, M.* ; Kremer, L.S. ; Tsiakas, K.* ; Alhaddad, B.* ; Haack, T.B. ; Löbel, U.* ; Feichtinger, R.G.* ; Sperl, W.* ; Prokisch, H. ; Mayr, J.A.* ; Santer, R.*

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

Mitochondrion 37, 55-61 (2017)
DOI PMC
Open Access Green as soon as Postprint is submitted to ZB.
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 amount of the Rieske Fe-S protein, which was restored after re-expression of LYRM7. Our data provide further evidence for the importance of LYRM7 for mitochondrial function and emphasise the importance of whole exome sequencing in the diagnosis of rare mitochondrial diseases.
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Publication type Article: Journal article
Document type Scientific Article
Keywords Complex Iii ; Encephalopathy ; Lyrm7 ; Lactic Acidosis ; Mitochondriopathy ; Whole Exome Sequencing; Mitochondrial Disease; I Deficiency; Mutations; Dna; Leukoencephalopathy; Encephalopathy; Lyrm7/mzm1l; Bcs1l
Language english
Publication Year 2017
HGF-reported in Year 2017
ISSN (print) / ISBN 1567-7249
e-ISSN 1872-8278
Journal Mitochondrion
Quellenangaben Volume: 37, Issue: , Pages: 55-61 Article Number: , Supplement: ,
Publisher Elsevier
Publishing Place Oxford
Reviewing status Peer reviewed
Institute(s) Institute of Human Genetics (IHG)
POF-Topic(s) 30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
Research field(s) Genetics and Epidemiology
PSP Element(s) G-500700-001
PubMed ID 28694194
DOI 10.1016/j.mito.2017.07.001
WOS ID WOS:000416296000007
Scopus ID 85023631590
Erfassungsdatum 2017-07-31
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