Severe muscle-eye-brain disease is associated with a homozygous mutation in the POMGnT1 gene.
Eur J Paediatr Neurol
; 12(2): 133-6, 2008 Mar.
Article
em En
| MEDLINE
| ID: mdl-17881266
ABSTRACT
Muscle-eye-brain (MEB) disease is an autosomal recessive disorder characterized by a broad clinical spectrum including congenital muscular dystrophy, ocular abnormalities, and brain malformation (type-II lissencephaly). Herein, we report on two Turkish siblings with a homozygous mutation in the POMGnT1 gene. A 6-year-old sibling has a severe form of MEB disease, which in some aspects is more suitable with the diagnosis of Walker-Warburg syndrome. However, the same mutation resulted in a less severe form of MEB in the older sibling, who is 14 years old. These two cases suggest that POMGnT1 mutations may cause MEB disease with different phenotypes even in the same family.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Encefalopatias
/
N-Acetilglucosaminiltransferases
/
Oftalmopatias
/
Doenças Musculares
Tipo de estudo:
Etiology_studies
/
Risk_factors_studies
Limite:
Adolescent
/
Child
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Eur J Paediatr Neurol
Assunto da revista:
NEUROLOGIA
/
PEDIATRIA
Ano de publicação:
2008
Tipo de documento:
Article
País de afiliação:
Turquia