[Strategies for clinical and molecular diagnosis of Charcot-Marie-Tooth 1A among Mexican patients]. / Estrategias para el diagnóstico clinico y molecular de Charcot-Marie-Tooth 1A. Estudio en pacientes mexicanos.
Gac Med Mex
; 143(5): 383-9, 2007.
Article
em Es
| MEDLINE
| ID: mdl-18246932
ABSTRACT
BACKGROUND:
Charcot-Marie-Tooth (CMT) is the most common inherited disorder of the human peripheral nerve. The mos tfrequent subtype, CMT1A, is associated with duplication of approximately 1.5 Mb fragment in 17p11-p12, that includes the PMP22 gene.OBJECTIVE:
The aim of this study was to describe different strategies used for clinical and molecular CNT1A diagnoses among patients attending the National Rehabilitation Institute of Mexico (INR). MATERIAL ANDMETHODS:
17 patients had clinical and electrophysiological features compatible with CMT1. A molecular study using capillary electrophoresis (CE) was performed and a PMP22 gene duplication was detectedRESULTS:
Clinical, biochemical and electrophysiological studies constituted the inclusion criteria to establish a CMT1 diagnosis. With CE the duplication of the PMP22 gene was observable and we established a possible CMT1A diagnosis in seven patients. All duplications detected by capillary electrophoresis were corroborated using FISH.CONCLUSION:
CE is a feasible and reliable method to detect PMP22 gene duplication. Using different clinical, electrophysiological and molecular strategies in this patient population allowed us to establish an accurate diagnosis and offer suitable genetic counseling.
Buscar no Google
Base de dados:
MEDLINE
Assunto principal:
Doença de Charcot-Marie-Tooth
Idioma:
Es
Ano de publicação:
2007
Tipo de documento:
Article