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LETTER TO JMG |
1 Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Antwerp, Belgium
2 Division of Neurology, Marqués de Valdecilla University Hospital, University of Cantabria, Santander, Spain
3 Division of Neurology, University Hospital Antwerp (UZA), Antwerp, Belgium
Correspondence to:
Dr E Nelis
Department of Molecular Genetics (VIB8), Peripheral Neuropathy Group, University of Antwerp (UIA Campus Drie Eiken), Universiteitsplein 1, B-2610 Antwerp, Belgium; eva.nelis@ua.ac.be]
Received 21 July 2003
5 September 2003
Keywords: Charcot-Marie-Tooth neuropathy; CMT2; axonal CMT; genetic linkage; chromosome 12q
| The first 150 words of the full text of this article appear below. |
Charcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous group of disorders that involve the peripheral nervous system.1 It is characterised by progressive distal neurogenic muscular atrophy and weakness that initially affects the peroneal muscles and later the hands. Charcot-Marie-Tooth disease type 1 (CMT1), also called hereditary motor and sensory neuropathy type I (HMSN I), is a dominantly inherited demyelinating neuropathy characterised by reduced nerve conduction velocities (NCV) (motor median NCV <38 m/s). Charcot-Marie-Tooth disease type 2 (CMT) 2, or HMSN II, is a dominantly inherited axonal neuropathy characterised by normal or slightly reduced NCV. Both autosomal dominant CMT1 and autosomal dominant CMT2 are genetically heterogeneous, with five and six loci, respectively.2 Most patients with CMT1 have a 1.4 Mb tandem duplication on chromosome 17p11.2 (CMT1A (MIM 118220)).3,4 Other patients with CMT1 may have point mutations in the peripheral myelin protein 22 gene (PMP22 in CMT1A (MIM 60197)),5 myelin
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