Detección de la duplicación del gen PMP22 en pacientes con neuropatía periférica: estudio en la población mexicana

Clinical practice and outcomes of preimplantation genetic testing for CMT1A using a novel direct detection method

“…Traditional detection methods for PMP22 duplications include fluorescence in situ hybridization (FISH), restriction fragment length polymorphism-polymerase chain reaction (RFLP-PCR), competitive multiplex PCR, and multiplex ligation-dependent probe amplification (MLPA) [ 15 , 16 ]. Among the techniques, MLPA is a routinely used, sensitive, specific, and accurate method [ 17 , 18 ].…”