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

Comment

Hélène Pagniez-Mammeri et al. Mol Genet Metab. 2010 Oct-Nov.

. 2010 Oct-Nov;101(2-3):297-8.

doi: 10.1016/j.ymgme.2010.07.005. Epub 2010 Jul 17.

No abstract available

Comment in

Not all cystic leukoencephalopathies are "vanishing white matter".
van der Knaap MS, Scheper GC. van der Knaap MS, et al. Mol Genet Metab. 2011 Aug;103(4):413; author reply 414. doi: 10.1016/j.ymgme.2011.04.011. Epub 2011 May 5. Mol Genet Metab. 2011. PMID: 21601503 No abstract available.

Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies.
Hoefs SJ, Skjeldal OH, Rodenburg RJ, Nedregaard B, van Kaauwen EP, Spiekerkötter U, von Kleist-Retzow JC, Smeitink JA, Nijtmans LG, van den Heuvel LP. Hoefs SJ, et al. Mol Genet Metab. 2010 Jul;100(3):251-6. doi: 10.1016/j.ymgme.2010.03.015. Epub 2010 Mar 21. Mol Genet Metab. 2010. PMID: 20382551

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