Elevation of serum creatine kinase as the only manifestation of an intragenic deletion of the dystrophin gene in three unrelated families.
Eur J Paediatr Neurol
; 2(5): 255-61, 1998.
Article
em En
| MEDLINE
| ID: mdl-10726828
ABSTRACT
This study reports three children from three unrelated families, aged from 9 to 12 years, who were investigated because of the incidental finding of elevated serum creatine kinase (CK) levels and were found to have a dystrophinopathy. The molecular defect consisted of a deletion of variable extent within the central rod domain of the dystrophin gene, involving either exons 32-44 or 48-51 or 48-53. In each family we found the same deletion in at least one adult male relative aged from 40 to 77 years, who was either completely asymptomatic or had very mild muscle involvement (thin muscles and/or mild scoliosis), with normal or borderline CK levels. This study suggests once again that deletions of the central rod domain of dystrophin may be associated with elevation of serum CK as the only manifestation and that prediction of the clinical severity based solely on the molecular findings should be interpreted with caution.
Buscar no Google
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Distrofina
/
Deleção de Genes
/
Creatina Quinase
/
Distrofia Muscular de Duchenne
Tipo de estudo:
Prognostic_studies
Limite:
Adult
/
Child
/
Humans
/
Male
Idioma:
En
Revista:
Eur J Paediatr Neurol
Ano de publicação:
1998
Tipo de documento:
Article