A Familial Nemaline Myopathy
Journal of the Korean Neurological Association
;
: 607-613, 1993.
Artículo
en Coreano
| WPRIM
| ID: wpr-89035
ABSTRACT
Nemaline myopathy is a rare congenital m opathy, characterized by nonprogressive or slowely progressive muscle weakness associated with rod-like structures in muscle fibers and characteristic dysmorphic features. We report the first farnilial nemaline myopathy in two generations of the same family, confirmed by muscle biospy in an 11-year-old boy and his mother. The patients had hypotonia and slowly progressive muscle weakness of the four limbs associated with characteristic facial dysmorphism and skeletal deformities. Light and electron microscopic study of a muscle biopsy showed numerous nemaline rods in both patients.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Anomalías Congénitas
/
Biopsia
/
Composición Familiar
/
Miopatías Nemalínicas
/
Debilidad Muscular
/
Extremidades
/
Madres
/
Hipotonía Muscular
Límite:
Niño
/
Humanos
/
Masculino
Idioma:
Coreano
Revista:
Journal of the Korean Neurological Association
Año:
1993
Tipo del documento:
Artículo
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