High diagnostic yield with algorithmic molecular approach on hereditary neuropathies.
Gülay Güleç CeylanEsra HabiloğluBusranur Erozan CavdarliEbru TuncezSule BilenÖzlem Yayıcı KökenC Nur Semerci GündüzPublished in: Revista da Associacao Medica Brasileira (1992) (2023)
The molecular etiology in Charcot-Marie-Tooth disease patients can be determined according to pre-test evaluation, deciding the inheritance type with pedigree analysis, the clinical phenotype, and an algorithm for the genetic analysis. The presence of patients without a molecular diagnosis in all the literature suggests that there are new genes or mechanisms waiting to be discovered in the etiology of Charcot-Marie-Tooth disease.