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Article

A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity.

Human mutation - 1 Dec 2013

Invernizzi Federica, Tigano Marco, Dallabona Cristina, Donnini Claudia, Ferrero Ileana, Cremonte Maurizio, Ghezzi Daniele, Lamperti Costanza, Zeviani Massimo

Abstract excerpt

Mutations in nuclear genes associated with defective complex III (cIII) of the mitochondrial respiratory chain are rare, having been found in only two cIII assembly factors and, as private changes in single families, three cIII structural subunits. Recently, human LYRM7/MZM1L, the ortholog of yeast MZM1, has been identified as a new assembly factor for cIII. In a baby patient with early onset, severe...

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Share to Acidosis, Lactic
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24014394
DOI: 10.1002/humu.22441
PMCID: PMC4028993

Genes

LYRM7

Variants

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