A Homozygous Mutation in LYRM 7/ MZM 1 L Associated with Early Onset Encephalopathy, Lactic Acidosis, and Severe Reduction of Mitochondrial Complex III Activity-Reference-Cited by-同舟云学术

A Homozygous Mutation in LYRM 7/ MZM 1 L Associated with Early Onset Encephalopathy, Lactic Acidosis, and Severe Reduction of Mitochondrial Complex III Activity

Published:2013-09-23 Issue:12 Volume:34 Page:1619-1622
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Invernizzi Federica¹,Tigano Marco²,Dallabona Cristina²,Donnini Claudia²,Ferrero Ileana²,Cremonte Maurizio³,Ghezzi Daniele¹,Lamperti Costanza¹,Zeviani Massimo¹⁴

Affiliation:

1. Unit of Molecular Neurogenetics Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Neurologico “Carlo Besta” Milan Italy

2. Department of Life Sciences University of Parma Parma Italy

3. Department of Child Neuropsychiatry C. Arrigo Hospital Alessandria Italy

4. MRC Mitochondrial Biology Unit Cambridge UK

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.22441

Reference17 articles.

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2. The LYR Protein Mzm1 Functions in the Insertion of the Rieske Fe/S Protein in Yeast Mitochondria

3. In vivo analysis of mtDNA replication defects in yeast

4. Clinical and molecular findings in children with complex I deficiency

5. Assembly of the mitochondrial membrane system. Analysis of structural mutants of the yeast coenzyme QH2–cytochrome c reductase complex;Crivellone MD;J Biol Chem,1988

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