Clinically asymptomatic adult patient with extensive LBSL MRI pattern and DARS2 mutations.
Labauge
Pierre
P
Dorboz
Imen
I
Eymard-Pierre
Eleonore
E
Dereeper
Olivier
O
Boespflug-Tanguy
Odile
O
D000328:Adult; D001226:Aspartate-tRNA Ligase / Q000235:genetics*; D001483:Base Sequence; D001921:Brain / Q000473:pathology*; D005260:Female; D006801:Humans; D056784:Leukoencephalopathies / Q000235:genetics* / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D055815:Young Adult
D001226:Aspartate-tRNA Ligase; C558608:DARS2 protein, human