A Novel Mutation in Aspartoacylase Gene; Canavan Disease.
Iran J Child Neurol
; 9(4): 54-7, 2015.
Article
en En
| MEDLINE
| ID: mdl-26664442
ABSTRACT
Objective Canavan disease (CD) is a type of vacuolating leukodystrophy with autosomal recessive inheritance. Aspartoacylase deficiency results in decrease of myelin biosynthesis, dysmyelination and brain edema. Although CD is a very common in Ashkenazi Jews patients, several cases have been reported from non-Jewish population. This report is based on a homozygous C.202G>A mutation in the ASPA gene identified from an Iranian patient. To our knowledge, this type of mutation has not been reported in non-Jewish population in the literature.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Tipo de estudio:
Prognostic_studies
Idioma:
En
Revista:
Iran J Child Neurol
Año:
2015
Tipo del documento:
Article
País de afiliación:
Irán