Article
De novo mutation of Charcot-Marie-Tooth disease type 1A.
Pediatric neurology - 1 Jul 1997
Tachi N, Kozuka N, Ohya K, Chiba S
Abstract excerpt
Charcot-Marie-Tooth disease type 1A (CMT 1A) is an autosomal dominant demyelinating polyneuropathy associated with a 1.5-Mb duplication of the p11.2-p12 region of chromosome 17, including the peripheral myelin protein-22 (PMP-22) gene (CMT 1A duplication). We report a male patient with a de novo CMT 1A diagnosed on clinical, electrophysiologic, and molecular grounds. Motor nerve conduction velocity (MCV) of the...
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