Autosomal Dominant Centronuclear Myopathy with Unique Clinical Presentations
Journal of Korean Medical Science
; : 1098-1101, 2007.
Artículo
en Inglés
| WPRIM (Pacífico Occidental)
| ID: wpr-204030
Biblioteca responsable:
WPRO
ABSTRACT
Centronuclear myopathies are clinically and genetically heterogenous diseases with common histological findings, namely, centrally located nuclei in muscle fibers with a predominance and hypotrophy of type 1 fibers. We describe two cases from one family with autosomal dominant centronuclear myopathy with unusual clinical features that had initially suggested distal myopathy. Clinically, the patients presented with muscle weakness and atrophy localized mainly to the posterior compartment of the distal lower extremities. Magnetic resonance imaging revealed predominant atrophy and fatty changes of bilateral gastrocnemius and soleus muscles. This report demonstrates the expanding clinical heterogeneity of autosomal dominant centronuclear myopathy.
Texto completo:
Disponible
Base de datos:
WPRIM (Pacífico Occidental)
Asunto principal:
Músculo Esquelético
/
Miopatías Estructurales Congénitas
/
Genes Dominantes
Límite:
Adolescente
/
Femenino
/
Humanos
Idioma:
Inglés
Revista:
Journal of Korean Medical Science
Año:
2007
Tipo del documento:
Artículo