Article
VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies.
Human mutation - 1 Aug 2014
Diodato Daria, Melchionda Laura, Haack Tobias B, Dallabona Cristina, Baruffini Enrico, Donnini Claudia, Granata Tiziana, Ragona Francesca, Balestri Paolo, Margollicci Maria, Lamantea Eleonora, Nasca Alessia, Powell Christopher A, Minczuk Michal, Strom Tim M, Meitinger Thomas, Prokisch Holger, Lamperti Costanza, Zeviani Massimo, Ghezzi Daniele
Abstract excerpt
By way of whole-exome sequencing, we identified a homozygous missense mutation in VARS2 in one subject with microcephaly and epilepsy associated with isolated deficiency of the mitochondrial respiratory chain (MRC) complex I and compound heterozygous mutations in TARS2 in two siblings presenting with axial hypotonia and severe psychomotor delay associated with multiple MRC defects. The nucleotide variants...
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