(Q63256284)
Statements
Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1 (English)
Ofer Sarig
Dorit Goldsher
Janna Nousbeck
Dana Fuchs-Telem
Ksenya Cohen-Katsenelson
Eli Sprecher
Hanna Mandel
Theodore C Iancu