Atypical presentation of Charcot-Marie-Tooth disease type 2Q by mutations on DHTKD1 and NTRK2 genes

• Egile Nagusiak: Dulce M. Castro-Coyotl (Egilea), Israel E. Crisanto-López (Egilea), Rosa M. Hernández-Camacho (Egilea), María P. Saldaña-Guerrero (Egilea)
• Formatua: Liburua
• Argitaratua: Permanyer, 2021-01-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: Connect to this object online.

Background: Charcot-Marie-Tooth disease type 2Q (CMT2Q) is a rare disorder (< 1/1,000,000 individuals worldwide) linked to chromosome 10p14 in the DHTKD1 gene. This phenotype is characterized by an adolescent or adulthood-onset, slowly progressive distal muscle weakness and symmetrical atrophy as...