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Document type:
journal article 
Author(s):
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 
Title:
VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies. 
Abstract:
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 segregated within the families, were absent in Single Nucleotide Polymorphism (SNP) databas...    »
 
Journal title abbreviation:
Hum Mutat 
Year:
2014 
Journal volume:
35 
Journal issue:
Pages contribution:
983-9 
Language:
eng 
Print-ISSN:
1059-7794 
TUM Institution:
Institut für Humangenetik