Rigid spine syndrome: case report
Arq. neuropsiquiatr
;
56(4): 812-8, dez. 1998. ilus, tab
Artículo
en Inglés
| LILACS
| ID: lil-226024
ABSTRACT
We describe a patient who had difficulty in walking since toddling stage and presented proximal upper and lower member weakness which have evolved to a progressive limitation of neck and trunk flexure, compatible with rigid spine syndrome. The serum muscle enzymes were somewhat elevated and the electromyography showed a myopatic change. The muscle biopsy demonstrated an active and chronic myopathy. The DNA analysis through PCR did not display any abnormality for dystrophin gene. The dystrophin by immnofluorescence was present in all fibers, but some interruptions were found in the plasma membrane giving it the appearance of a rosary. The test for merosin was normal.
Texto completo:
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Índice:
LILACS (Américas)
Asunto principal:
Enfermedades de la Columna Vertebral
/
Distrofina
/
Laminina
/
Rigidez Muscular
Límite:
Niño
/
Humanos
/
Masculino
Idioma:
Inglés
Revista:
Arq. neuropsiquiatr
Asunto de la revista:
Neurología
/
Psiquiatria
Año:
1998
Tipo del documento:
Artículo
País de afiliación:
Brasil
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