Cargando…
A Novel Mutation in CLCN1 Associated with Feline Myotonia Congenita
Myotonia congenita (MC) is a skeletal muscle channelopathy characterized by inability of the muscle to relax following voluntary contraction. Worldwide population prevalence in humans is 1∶100,000. Studies in mice, dogs, humans and goats confirmed myotonia associated with functional defects in chlor...
Autores principales: | Gandolfi, Barbara, Daniel, Rob J., O'Brien, Dennis P., Guo, Ling T., Youngs, Melanie D., Leach, Stacey B., Jones, Boyd R., Shelton, G. Diane, Lyons, Leslie A. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2014
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4214686/ https://www.ncbi.nlm.nih.gov/pubmed/25356766 http://dx.doi.org/10.1371/journal.pone.0109926 |
Ejemplares similares
-
Novel CLCN1 Mutations and Clinical Features of Korean Patients with Myotonia Congenita
por: Moon, In-Soo, et al.
Publicado: (2009) -
Novel Mutations in the CLCN1 Gene of Myotonia Congenita: 2 Case
Reports
por: Lakraj, Amanda Amrita, et al.
Publicado: (2013) -
Myotonia Congenita: Clinical Characteristic and Mutation Spectrum of CLCN1 in Chinese Patients
por: Hu, Chaoping, et al.
Publicado: (2021) -
Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita
por: Portaro, Simona, et al.
Publicado: (2015) -
A Novel Mutation in the CLCN1 Gene Causing Autosomal Recessive Myotonia Congenita in Siblings
por: Chakravarty, Kamalesh, et al.
Publicado: (2021)