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Dokumenttyp:
journal article 
Autor(en):
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 
Titel:
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...    »
 
Zeitschriftentitel:
Hum Mutat 
Jahr:
2014 
Band / Volume:
35 
Heft / Issue:
Seitenangaben Beitrag:
983-9 
Sprache:
eng 
Print-ISSN:
1059-7794 
TUM Einrichtung:
Institut für Humangenetik