Congenital muscular dystrophy type 1A with residual merosin expression / 소아과
Korean Journal of Pediatrics
;
: 149-152, 2014.
Artigo
em Inglês
| WPRIM
| ID: wpr-120722
ABSTRACT
Congenital muscular dystrophy type 1A (MDC1A) is an autosomal recessive disorder characterized by hypotonia, elevated serum creatine kinase level, delayed motor milestones, white matter changes observed by brain magnetic resonance imaging, and normal intelligence. A mutation in the laminin alpha2 (LAMA2) gene, located at 6q22-23, is a genetic cause of MDC1A. Patients have merosin (laminin alpha2)-deficient skeletal muscles. However, the degree of merosin expression ranges from total absence to partial reduction. Patients with residual merosin expression have more variable and milder phenotypes than those with absolute merosin deficiency. We observed a Korean girl with MDC1A with residual merosin expression. Clinical presentation of this patient was typical except for late onset of the disease and external capsule involvement. Immunohistochemical staining of muscle fibers including merosin, is important to evaluate patients with hypotonia, delayed motor development, and abnormal white matter changes.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fenótipo
/
Encéfalo
/
Imuno-Histoquímica
/
Imageamento por Ressonância Magnética
/
Laminina
/
Músculo Esquelético
/
Creatina Quinase
/
Inteligência
/
Hipotonia Muscular
/
Distrofias Musculares
Limite:
Feminino
/
Humanos
Idioma:
Inglês
Revista:
Korean Journal of Pediatrics
Ano de publicação:
2014
Tipo de documento:
Artigo
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