Article
Pregnancy after preimplantation genetic diagnosis for Charcot-Marie-Tooth disease type 1A.
Molecular human reproduction - 1 Oct 1998
De Vos A, Sermon K, Van de Velde H, Joris H, Vandervorst M, Lissens W, Mortier G, De Sutter P, Löfgren A, Van Broeckhoven C, Liebaers I, Van Steirteghem A
Abstract excerpt
Charcot-Marie-Tooth (CMT) disease type 1A is an autosomal dominant peripheral neuropathy characterized by slow progressive distal muscle wasting and weakness, and decreased nerve conduction velocities. Most CMT1A cases (>98%) are caused by a duplication of a 1.5 Mb region on the short arm of chromosome 17 containing the PMP22 gene. A couple with a previous history of CMT followed by termination of pregnancy was...
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