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LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study.
Mitochondrion 37, 55-61 (2017)
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
Institute(s) Institute of Human Genetics (IHG)