Girl with signs of Pelizaeus-Merzbacher disease heterozygous for a mutation in exon 2 of the proteolipid protein gene.
Am J Med Genet
; 55(4): 397-401, 1995 Feb 13.
Article
em En
| MEDLINE
| ID: mdl-7539211
ABSTRACT
We studied a female infant with clinical signs of Pelizaeus-Merzbacher disease (PMD), who has a familial mutation (C41-->T) in exon 2 of the proteolipid protein gene (PLP), and selected relatives. While the carrier mother and grandmother of the proposita currently are neurologically normal and show normal T2 magnetic resonance imaging (MRI) of the brain, the infant has a neurological picture, MRIs, and brain auditory evoked response (BAER) consistent with that diagnosis. The data here presented show that PMD can occur in females carrying a mutation in the PLP gene. Our experience with the MRIs of this patient, her mother and grandmother, and those of a previously reported family [Pratt et al. Am J Med Genet 38136-139, 1991] show that molecular genetic analysis and not MRI is the appropriate means for carrier detection.
Buscar no Google
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Esclerose Cerebral Difusa de Schilder
/
Mutação Puntual
/
Proteínas da Mielina
Tipo de estudo:
Diagnostic_studies
Limite:
Child, preschool
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Am J Med Genet
Ano de publicação:
1995
Tipo de documento:
Article
País de afiliação:
Estados Unidos