Walker-Warburg syndrome is genetically distinct from Fukuyama type congenital muscular dystrophy.
J Neurol Sci
; 177(2): 150-3, 2000 Aug 15.
Article
em En
| MEDLINE
| ID: mdl-10980312
ABSTRACT
A female patient who fulfilled the diagnostic criteria of Walker-Warburg syndrome had muscle biopsy finding of muscular dystrophy. There was normal expression of merosin (laminin alpha2 chain) and dystrophin and only slightly reduced dystrophin-associated glycoprotein expression. On genetic analysis, she had no specific haplotype, the common mutation of 3kb insertion, or point mutations in the Fukuyama-type congenital muscular dystrophy gene, suggesting that the two diseases are not genetically identical.
Buscar no Google
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Encéfalo
/
Distrofias Musculares
Tipo de estudo:
Diagnostic_studies
Limite:
Female
/
Humans
/
Infant
Idioma:
En
Revista:
J Neurol Sci
Ano de publicação:
2000
Tipo de documento:
Article
País de afiliação:
Japão