Phenotype and Clinical Evolution of Charcot-Marie-Tooth Disease Type 1A Duplication
Phenotype and Clinical Evolution of Charcot-Marie-Tooth Disease Type 1A Duplication
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DOI：
10.1007/978-90-481-2813-6_12
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发表时间：
2009-01-01
期刊：
影响因子：
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通讯作者：
Combarros, Onofre
中科院分区：
文献类型：
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作者：
Berciano, Jose;Garcia, Antonio;Combarros, Onofre
本文对腓骨肌萎缩症1A型重复（CMT 1A）的表型和临床演变进行了研究。我们主要关注四个表型特征：（i）“经典”表型，如目前在先证者患者中观察到的;（ii）婴儿期和儿童早期继发病例的轻度表型演变;（iii）近端下肢肌肉组织受累作为晚期表型特征;（iv）最小成人表型。我们还简要地修订了遗传，电生理，病理和神经影像学资料的疾病。
In this paper we revise the phenotype and clinical evolution of Charcot-Marie-Tooth disease type 1A duplication (CMT1A). We mainly focus on four phenotypic hallmarks: (i) "classic" phenotype, as currently observed in proband patients; (ii) evolution of mild phenotype of secondary cases in infancy and early childhood; (iii) proximal lower-limb musculature involvement as a late phenotypic feature; and (iv) minimal adult phenotype. We also briefly revise genetic, electrophysiological, pathological and neuroimaging data of the disease.