Article
Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene.
Human genetics - 1 Dec 1994
Nelis E, Timmerman V, De Jonghe P, Vandenberghe A, Pham-Dinh D, Dautigny A, Martin J J, Van Broeckhoven C
Abstract excerpt
Charcot-Marie-Tooth type 1 (CMT1) disease or hereditary motor and sensory neuropathy type I (HMSNI) is an autosomal dominant peripheral neuropathy. In most CMT1 families, the disease cosegregates with a 1.5-Mb duplication on chromosome 17p11.2 (CMT1A). A few patients have been found with mutations in the peripheral myelin protein 22 (PMP-22) gene located in the CMT1A region. In other families mutations have been...
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