ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe–4S] proteins

@article{Torraco2018ISCA1MI,
  title={ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe–4S] proteins},
  author={Alessandra Torraco and Oliver Stehling and Claudia St{\"u}mpfig and Ralf R{\"o}sser and Domenico de Rasmo and Giuseppe Fiermonte and Daniela Verrigni and Teresa Rizza and Angelo Vozza and Michela Di Nottia and Daria Diodato and Diego Martinelli and Fiorella Piemonte and Carlo Dionisi-Vici and Enrico Silvio Bertini and Roland Lill and Rosalba Carrozzo},
  journal={Human Molecular Genetics},
  year={2018},
  volume={27},
  pages={2739–2754}
}
Multiple Mitochondrial Dysfunction Syndromes (MMDS) comprise a group of severe autosomal recessive diseases characterized by impaired respiration and lipoic acid metabolism, resulting in infantile-onset mitochondrial encephalopathy, non-ketotic hyperglycinemia, myopathy, lactic acidosis and early death. Four different MMDS have been analyzed in detail according to the genes involved in the disease, MMDS1 (NFU1), MMDS2 (BOLA3), MMDS3 (IBA57), and MMDS4 (ISCA2). MMDS5 has recently been described… 

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