Guest guest Posted January 17, 2003 Report Share Posted January 17, 2003 Abtract From J Neurol 2002 Dec;249(12):1629-50 Clinical features and molecular genetics of hereditary peripheral neuropathies. Kuhlenbaumer G, Young P, Hunermund G, Ringelstein B, Stogbauer F. Department of Neurology, University of Munster, Albert-Schweitzer-Str. 33, 48129 Munster, Germany. gkuhlen@... Hereditary peripheral neuropathies are the most common monogenetically inherited diseases of the nervous system. The prevalence of the Hereditary Motor and Sensory Neuropathy Type 1A (HMSN 1A or Charcot-Marie-Tooth Neuropathy 1A, CMT1A) alone is estimated to be as high as 1/5000. In 1991, a duplication on chromosome 17p11.2 was identified as the causative genetic defect of CMT1A. Since then causative mutations in 17 genes have been identified. This review summarises the clinical and molecular genetic features of primary inherited neuropathies. It is aimed primarily at clinicians and geneticists. Therefore less emphasis is placed on the pathology and the (often unknown) underlying biological disease mechanisms. Quote Link to comment Share on other sites More sharing options...
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