Atypical presentation of Charcot-Marie-Tooth disease type 2Q by mutations on DHTKD1 and NTRK2 genes
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...
Main Authors: | Dulce M. Castro-Coyotl, Israel E. Crisanto-López, Rosa M. Hernández-Camacho, María P. Saldaña-Guerrero |
---|---|
Format: | Article |
Language: | English |
Published: |
Permanyer
2021-01-01
|
Series: | Boletín Médico del Hospital Infantil de México |
Subjects: | |
Online Access: | https://www.bmhim.com/frame_esp.php?id=261 |
Similar Items
-
Charcot-Marie-Tooth Disease Subtypes and Genetics
by: J Gordon Millichap
Published: (2011-03-01) -
Charcot-Marie-Tooth: From Molecules to Therapy
by: Jonathan Morena, et al.
Published: (2019-07-01) -
Genetics of Charcot-Marie-Tooth Disease
by: J Gordon Millichap
Published: (1998-05-01) -
Management of Charcot–Marie–Tooth disease: improving long-term care with a multidisciplinary approach
by: McCorquodale D, et al.
Published: (2016-01-01) -
Evaluation of life quality in patients with hereditary neuropathy Charcot—Marie—Tooth in the Krasnoyarsk Region
by: N. A. Shnayder, et al.
Published: (2011-04-01)