Cargando…
Mice with an autosomal dominant Charcot-Marie-Tooth type 2O disease mutation in both dynein alleles display severe moto-sensory phenotypes
Charcot-Marie-Tooth disease (CMT) is the most common peripheral neuromuscular disorder worldwide. The axonal degeneration in CMT causes distal muscle weakness and atrophy, resulting in gait problems and difficulties with basic motor coordination skills. A mutation in the cytoplasmic dynein heavy cha...
Autores principales: | Nandini, Swaran, Conley Calderon, Jami L., Sabblah, Thywill T., Love, Rachal, King, Linda E., King, Stephen J. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6700207/ https://www.ncbi.nlm.nih.gov/pubmed/31427617 http://dx.doi.org/10.1038/s41598-019-48431-7 |
Ejemplares similares
-
A novel mouse model carrying a human cytoplasmic dynein mutation shows motor behavior deficits consistent with Charcot-Marie-Tooth type 2O disease
por: Sabblah, Thywill T., et al.
Publicado: (2018) -
Mutations in MME cause an autosomal‐recessive Charcot–Marie–Tooth disease type 2
por: Higuchi, Yujiro, et al.
Publicado: (2016) -
Diagnosis of Charcot-Marie-Tooth Disease
por: Banchs, Isabel, et al.
Publicado: (2009) -
Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease
por: Kim, Hyeon Jin, et al.
Publicado: (2013) -
Charcot–Marie–Tooth disease and intracellular traffic
por: Bucci, Cecilia, et al.
Publicado: (2012)