Leukoencephalopathy with vanishing white matter caused by compound heterozygous mutations in mitochondrial complex I NDUFS1 subunit

Mol Genet Metab. 2010 Oct-Nov;101(2-3):297-8. doi: 10.1016/j.ymgme.2010.07.005. Epub 2010 Jul 17.

Authors

Hélène Pagniez-Mammeri, Pierre Landrieu, Alain Legrand, Abdelhamid Slama

PMID: 20797884
DOI: 10.1016/j.ymgme.2010.07.005

No abstract available

Publication types

Letter
Comment

MeSH terms

Brain / pathology
Electron Transport Complex I / deficiency*
Humans
Leukoencephalopathies / genetics*
Leukoencephalopathies / pathology
Magnetic Resonance Imaging
NADH Dehydrogenase / genetics*

Substances

NDUFS1 protein, human
NADH Dehydrogenase
Electron Transport Complex I