Utility of STR markers for the molecular diagnosis of a large Brazilian family with Charcot-Marie-Tooth disease
“Utility of STR markers for the molecular diagnosis of a large Brazilian family with Charcot-Marie-Tooth disease”, vol. 7, pp. 1179-1185, 2008.,
Charcot-Marie-Tooth type 1A disease (CMT1A) is most frequently caused by a tandem DNA duplication of a 1.4-Mb genomic fragment in the 17p11.2-12 chromosomal region. The disease is probably the product of a dosage effect of the peripheral myelin protein 22 gene located within the duplicated segment. We sought to study the largest reported Brazilian family with suspected diagnosis of CMT1A using eight short tandem repeat microsatellite markers. In addition, we analyzed the informativeness of these markers in the normal Brazilian population.