Saada A

Title : Mitochondrial hepato-encephalopathy due to deficiency of QIL1\/MIC13 (C19orf70), a MICOS complex subunit - Zeharia_2016_Eur.J.Hum.Genet_24_1778

Author(s) : Zeharia A , Friedman JR , Tobar A , Saada A , Konen O , Fellig Y , Shaag A , Nunnari J , Elpeleg O

Ref : Eur J Hum Genet , 24 :1778 , 2016

Abstract :

PubMedSearch : Zeharia_2016_Eur.J.Hum.Genet_24_1778

PubMedID: 27485409

Title : 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 - Sarig_2013_Am.J.Med.Genet.A_161A_2204

Author(s) : Sarig O , Goldsher D , Nousbeck J , Fuchs-Telem D , Cohen-Katsenelson K , Iancu TC , Manov I , Saada A , Sprecher E , Mandel H

Ref : American Journal of Medicine Genet A , 161A :2204 , 2013

Abstract :

PubMedSearch : Sarig_2013_Am.J.Med.Genet.A_161A_2204

PubMedID: 23918762

Gene_locus related to this paper: human-SERAC1

Saada A

References (2)

1. Mitochondrial hepato-encephalopathy due to deficiency of QIL1\/MIC13 (C19orf70), a MICOS complex subunit - Zeharia_2016_Eur.J.Hum.Genet_24_1778

2. 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 - Sarig_2013_Am.J.Med.Genet.A_161A_2204