Gene Locus : human-PREPL
Mode of mutation : Natural mutant
Disease : Myasthenic syndrome, congenital, 22\; CMS22
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 : In a girl with congenital myasthenic syndrome-22 (CMS22\; 616224), Regal et al. (2014) identified compound heterozygous mutations in the PREPL gene: a 1-bp deletion (c.807delT, NM_006036.4) in exon 6, resulting in a met270-to-ter (M270X) substitution inherited from her unaffected father, and a 33.6-kb deletion on chromosome 2p21 encompassing exons 5 to 10 of the SLC3A1 gene and exons 9 to 14 of the PREPL gene inherited from her unaffected mother. Thus, PREPL deficiency determined the phenotype in the patient
| Title : PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome - Regal_2014_Neurology_82_1254 |
| Author(s) : Regal L , Shen XM , Selcen D , Verhille C , Meulemans S , Creemers JW , Engel AG |
| Ref : Neurology , 82 :1254 , 2014 |
| Abstract : Regal_2014_Neurology_82_1254 |
| ESTHER : Regal_2014_Neurology_82_1254 |
| PubMedSearch : Regal_2014_Neurology_82_1254 |
| PubMedID: 24610330 |
| Gene_locus related to this paper: human-PREPL |