腓骨肌萎缩症4型遗传学研究进展

doi:10.16288/j.yczz.14-412

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HEREDITAS(Beijing) ›› 2015, Vol. 37 ›› Issue (6): 501-509.doi: 10.16288/j.yczz.14-412

• Reviews • Next Articles

Advances in genetic studies of Charcot-Marie-Tooth disease type 4 (CMT4)

Ye Xu¹, Jiaying Zhang¹, Boyu Yang¹, Zhihong He¹, Muchen Zhang¹, Zhen Yu², Mingmin Gu²

1. School of Medicine, Shanghai Jiao Tong University Shanghai 200025, China;
2. Department of Medical Genetics, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China

Received:2014-11-25 Revised:2015-03-25 Online:2015-06-20 Published:2015-06-20

Abstract

Abstract: The Charcot-Marie-Tooth disease (CMT) is one of the most common human inherited peripheral neuropathies. The most common pattern of inheritance is autosomal dominant, with less often occurrence autosomal recessive and X-linked dominant/recessive inheritance. CMT is generally divided into three forms: demyelinating forms (CMT1), axonal forms (CMT2) and intermediate forms (DI-CMT). The autosomal recessive form (AR-CMT1 or CMT4) is accompanied by progressive distal muscle weakness and atrophy of the limbs, pes cavus and claw-like hands. In addition, CMT4 is also characterized by early onset, rapid progression, and varying degrees of sensory loss and spinal deformities (e.g. scoliosis). Recently, 11 subtypes of CMT4 have been identified. Some of these subtypes were clear in pathogenic mechanisms, some had founder mutation, but some still had limited clinical description and mutation analysis. In this review, we summarize the latest research progresses of CMT4, including genotypes and phenotypes, pathogenic mechanisms and mouse models.

Key words: Charcot-Marie-Tooth disease, CMT type 4, pathogenic mechanism, mouse model

Ye Xu, Jiaying Zhang, Boyu Yang, Zhihong He, Muchen Zhang, Zhen Yu, Mingmin Gu. Advances in genetic studies of Charcot-Marie-Tooth disease type 4 (CMT4)[J]. HEREDITAS(Beijing), 2015, 37(6): 501-509.

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