Whole exome sequencing establishes diagnosis of Charcot-Marie-Tooth 4J, 1C, and X1 subtypes.

Kleita MichaelidouIoannis TsiverdisSophia ErimakiDimitra PapadimitriouGeorgios AmoiridisAlexandros PapadimitriouPanayiotis MitsiasIoannis V Zaganas

Published in: Molecular genetics & genomic medicine (2020)

Novel diagnostic techniques, such as WES, offer the possibility to decipher the cause of CMT subtypes, ending the diagnostic Odyssey of the patients and sparing them from unnecessary and potentially harmful treatments.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
patient reported outcomes
patient reported