Gene Locus : human-SERAC1
Mode of mutation : Natural mutant
Disease : MEGDEL syndrome
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment :
compound heterozygous variants in SERAC1. The first variant (c.1347-1350dupATCT, p.Val451fs) had already been reported in MEGDEL syndrome (3-MethylGlutaconic aciduria, Deafness, Encephalopathy, Leigh-like syndrome). The second variant (c.1598C>T, p.Pro533Leu)
| Title : Adult-onset Generalized Dystonia as the Main Manifestation of MEGDEL Syndrome - Giron_2018_Tremor.Other.Hyperkinet.Mov.(N.Y)_8_554 |
| Author(s) : Giron C , Roze E , Degos B , Meneret A , Jardel C , Lannuzel A , Mochel F |
| Ref : Tremor Other Hyperkinet Mov (N Y) , 8 :554 , 2018 |
| Abstract : |
| PubMedSearch : Giron_2018_Tremor.Other.Hyperkinet.Mov.(N.Y)_8_554 |
| PubMedID: 29686941 |
| Gene_locus related to this paper: human-SERAC1 |