1.
Journal of the Korean Neurological Association
;
: 607-613, 1993.
Artigo
em Coreano
| WPRIM
| ID: wpr-89035
RESUMO
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.
Assuntos
Criança , Humanos , Masculino , Biópsia , Anormalidades Congênitas , Extremidades , Características da Família , Mães , Hipotonia Muscular , Debilidade Muscular , Miopatias da Nemalina
2.
Korean Journal of Obstetrics and Gynecology
;
: 3126-3131, 1993.
Artigo
em Coreano
| WPRIM
| ID: wpr-210861
RESUMO
No abstract available.