Article
Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies: a SacI polymorphism in the proximal CMT1A-REP elements may lead to genetic misdiagnosis.
Neurogenetics - 1 Dec 1998
Fuchs C, Liehr T, Ozbey S, Ekici A, Grehl H, Rautenstrauss B
Abstract excerpt
A male patient with clinical signs and symptoms of a demyelinating neuropathy was shown to have a duplication of the 1.5-Mb region on chromosome 17p11.2 by means of two-color fluorescence in situ hybridization (FISH). This duplication is typical for the vast majority of Charcot-Marie-Tooth type 1A (CMT1A) cases. Analysis of DNA extracted from peripheral blood used to detect an EcoRI/SacI 3. 2-kb junction fragment...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.