Molecular genetics of Charcot-Marie-Tooth disease

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Beijing Da Xue Xue Bao. 2005 Feb 18;37(1):100-5.

Molecular genetics of Charcot-Marie-Tooth disease

Zhang YZ, Zhong N.

Department of Medical Genetics,Peking University Health Science Center, Beijing

100083, China.

Charcot-Marie-Tooth disease (CMT) affects the peripheral nervous system. It is

generally inherited in an autosomal dominant pattern, but also is inherited in

recessive or an X-linked pattern. The degree of severity can vary greatly from

patient to patient, even within the same family. Traditionally, the different

classes of CMT have been divided into demyelinating forms and axonal forms.

Until 10 years ago, the genetic basis of CMT disease was largely unknown. An

intrachromosomal duplication on chromosome 17 was found in 1991, and a point

mutation in the peripheral myelin protein-22 gene was discovered in 1992. The

work starts a new stage of the molecular basis of this large group of peripheral

neuropathies. In this review, we will summarize what is known today about the

genetics of CMT, and what we have learned about the underlying disease

mechanisms. (Full article in Chinese)

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