Capillary electrophoresis for the detection of PMP22 gene duplication: Study in Mexican patients
Por:
Hernández-Zamora E., Arenas-Sordo, MD, Maldonado-Rodríguez R.
Publicada:
1 abr 2008
Resumen:
Charcot-Marie-Tooth (CMT) disease is the most common inherited disorder of the human peripheral nerve, with an estimated overall prevalence of 17-40/10 000 [1]. The typical phenotype presents peroneal muscular atrophy and pes cavus [2]. CMT is usually divided into two large types, about two-thirds of the patients have CMT type 1 (CMT1), that affects the layer of myelin (demyelination). In type 2 (CMT2) the nerve fibers are affected (axonal). CMT diseases have autosomal dominant, autosomal recessive, and X-linked inheritance [1]. The most frequent subtype is 1A (CMT1A) with autosomal dominant transmission, secondary in most cases to a tandem duplication of a 1.5 Mb DNA fragment on chromosome 17p11.2-p12 [4-7]. In this region, the codification of the peripheral myelin protein 22 (PMP22) takes place. The severity of the disease varies among patients, even within the same family, from almost no symptoms to severe foot-drop and sensory loss. The PMP22 gene has four exons and is regulated by
Filiaciones:
Hernández-Zamora E.:
Genetics Department, Instituto Nacional de Rehabilitación, Av. México-Xochimilco 289, Tlalpan 14389 México City, Mexico
Maldonado-Rodríguez R.:
Biochemistry Department, Escuela Nacional de Ciencias Biológicas, Instituto Politécnico Nacional, México City, Mexico
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