2A 型腓骨肌萎缩症(综述)(国外英文资料).docVIP

2A 型腓骨肌萎缩症(综述)(国外英文资料)2A fibular atrophy (review)2014-08-26: the lilac garden author: xinyi seedCharcot-marie-tooth type axon disease (CMT) is a kind of genetic heterogeneity, disease has now identified 11 kinds of related genes, with MFN2 gene mutations and among them the most common (CMT2A). Recent JAMA Neurol magazine published the latest clinical review, aims to elaborate the clinical and molecular features of CMT2A, to clear the prognosis factors of understanding particular phenotype and the correlation between clinical consequences, and identification of the interaction between the related genes. The details are as follows:Peroneal muscular atrophy (CMT), is a kind of hereditary motor sensory neuropathy, in distal limbs progressive muscle weakness and atrophy is characterized with sensory disorder, has obvious clinical and genetic heterogeneity. CMT is mainly based on the genetic methods (autosomal dominant, autosomal recessive, or X - linkage) and median nerve conduction velocity (MNCV) classification.Among them, the demyelination type (CMT1), median nerve conduction velocity (MNCV) 30 m/s; Axon (CMT2), MNCV 40m/s, intermediate, MNCV is between 30 and 40m/s. While CMT1 type for autosomal dominant, while CMT2 type can be autosomal dominant, recessive, or x-linked inheritance, genetic heterogeneity, has identified 11 kinds of related gene (detailed below).Table 1: the genes associated with CMT2 are knownKIF1B/OMIM 605995 genesMFN2 gene/OMIM 608507 / CMT2ARAB7 gene/OMIM 602298 / CMT2BTRPV4 gene/OMIM 605427 / CMT2CGARS gene/OMIM 600287 / CMT2DNEFL gene/OMIM 162280 / CMT2EHSPB1 gene/OMIM 602195 / CMT2FMPZ gene/OMIM 159440 / CMT2IGDAP1 gene/OMIM 606598 / CMT2KHSPB8 gene/OMIM 608014 / CMT2LAARS gene/OMIM 601065 / CMT2NThe CMT2A is the most common CMT2 subtype, which is associated with the MFN2 gene (encoding mitochondrial fusion nucleoprotein). In this paper, the authors report the phenotype and molecular characteristics of 43 MFN2 mutant patients.Methods:: 1. The