Classification and molecular diagnostic procedure for Chacort-Marie-Tooth disease / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 553-557, 2012.
Artículo
en Chino
| WPRIM
| ID: wpr-232258
ABSTRACT
Charcot-Marie-Tooth disease (CMT) is the most common form of hereditary neuropathy with significant clinical and genetic heterogeneity. So far 28 genes have been cloned. The main clinical manifestations of CMT include progressive distal muscle wasting and weakness, impaired distal sensation, and diminishing or loss of tendon reflex. Patients may be classified into demyelinating type (CMT1) and axonal type (CMT2) according to electrophysiological and pathological characteristics. Establishment of a standard diagnostic procedure based on clinical, electrophysiological and pathological findings will enable accurate diagnosis in most CMT patients and provide guidance for gene consulting and prognosis.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Enfermedad de Charcot-Marie-Tooth
/
Clasificación
/
Diagnóstico
/
Genética
Tipo de estudio:
Estudio diagnóstico
/
Guía de Práctica Clínica
/
Estudio pronóstico
Límite:
Humanos
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2012
Tipo del documento:
Artículo
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