A Case of Charcot-Marie-Tooth 1A Showing Atypical Clinical and Pathological Features
Journal of the Korean Neurological Association
;
: 494-498, 2000.
Artículo
en Coreano
| WPRIM
| ID: wpr-146843
ABSTRACT
A 7 year-old girl presented with generalized muscle weakness and delayed motor development. She was able to stand up at 15 months and began to walk at 4 years of age. A nerve conduction study showed severe demyelinating neuropa-thy .There was no family history of peripheral neuropathy, and her parents and younger brother were clinically and electrophysiologically normal. A sural nerve biopsy showed moderate loss of myelinated fibers with onion-bulb forma-tions. Many teased nerve fibers revealed typical tomaculous changes. However the molecular genetic study of the patient confirms the duplication of 17p11.2-p22 on a polymerase chain reaction using D17S261 as a primer but not in her parents.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Padres
/
Fenotipo
/
Nervio Sural
/
Biopsia
/
Enfermedad de Charcot-Marie-Tooth
/
Reacción en Cadena de la Polimerasa
/
Enfermedades del Sistema Nervioso Periférico
/
Debilidad Muscular
/
Hermanos
/
Genotipo
Límite:
Niño
/
Femenino
/
Humanos
Idioma:
Coreano
Revista:
Journal of the Korean Neurological Association
Año:
2000
Tipo del documento:
Artículo
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