A Family of Bethlem Myopathy
Journal of the Korean Neurological Association
; : 614-617, 2006.
Article
en Ko
| WPRIM
| ID: wpr-23261
Biblioteca responsable:
WPRO
ABSTRACT
Bethlem myopathy (BM) is an early-onset benign autosomal dominant myopathy characterized by proximal muscle weakness and multiple contractures. It is caused by mutations in the three genes encoding collagen VI, which is a ubiquitous extracellular matrix protein forming a microfibrillar network in close association with the basement membrane. Here, we present a family with BM which is the first reported Korean case.
Palabras clave
Texto completo:
1
Índice:
WPRIM
Asunto principal:
Membrana Basal
/
Colágeno
/
Debilidad Muscular
/
Contractura
/
Matriz Extracelular
/
Enfermedades Musculares
Límite:
Humans
Idioma:
Ko
Revista:
Journal of the Korean Neurological Association
Año:
2006
Tipo del documento:
Article