Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy.

M Schuelke; J Smeitink; E Mariman; J Loeffen; Barbara Plecko; F Trijbels; S Stöckler-Ipsiroglu; L van den Heuvel

doi:10.1038/6772

Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy.

M Schuelke
, J Smeitink
, E Mariman
, J Loeffen
, Barbara Plecko
, F Trijbels
, S Stöckler-Ipsiroglu
, L van den Heuvel

Medical University Graz

Research output: Contribution to journal › Research letter

226 Citations (Web of Science)

Original language	English
Journal	Nature Genetics
DOIs	https://doi.org/10.1038/6772
Publication status	Published - 1999

Branches of science

302 Clinical Medicine

DOI

10.1038/6772

Links

Cite this

@article{dc7f73270fb4410c9d4b5114613be61a,

title = "Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy.",

author = "M Schuelke and J Smeitink and E Mariman and J Loeffen and Barbara Plecko and F Trijbels and S St{\"o}ckler-Ipsiroglu and \{van den Heuvel\}, L",

year = "1999",

doi = "10.1038/6772",

language = "English",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "Nature Research",

}

TY - JOUR

T1 - Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy.

AU - Schuelke, M

AU - Smeitink, J

AU - Mariman, E

AU - Loeffen, J

AU - Plecko, Barbara

AU - Trijbels, F

AU - Stöckler-Ipsiroglu, S

AU - van den Heuvel, L

PY - 1999

Y1 - 1999

UR - https://www.webofscience.com/wos/woscc/full-record/WOS:000078977900015

UR - https://pubmed.ncbi.nlm.nih.gov/10080174

U2 - 10.1038/6772

DO - 10.1038/6772

M3 - Research letter

C2 - 10080174

SN - 1061-4036

JO - Nature Genetics

JF - Nature Genetics

ER -