A novel mutation of the CLCN1 gene in a cat with myotonia congenita: Diagnosis and treatment
Author:
Affiliation:
1. College of Veterinary Medicine North Carolina State University Raleigh North Carolina USA
2. Veterinary Medical Center University of Minnesota Saint Paul Minnesota USA
Publisher
Wiley
Subject
General Veterinary
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/jvim.16471
Reference34 articles.
1. Myotonia and disorders of altered muscle cell membrane excitability
2. The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment
3. An Up-to-Date Overview of the Complexity of Genotype-Phenotype Relationships in Myotonic Channelopathies
4. The nondystrophic myotonias
5. The myotonic dystrophies: molecular, clinical, and therapeutic challenges
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1. Characterization of ClC‐1 chloride channels in zebrafish: a new model to study myotonia;The Journal of Physiology;2024-07-19
2. Beta-mannosidosis in a domestic cat associated with a missense variant in MANBA;Gene;2024-01
3. Hereditary myotonia in cats associated with a new homozygous missense variant p.Ala331Pro in the muscle chloride channel ClC‐1;Journal of Veterinary Internal Medicine;2023-09-05
4. A complex CLCN1 variant associated with hereditary myotonia in a mixed-breed dog;Journal of Veterinary Diagnostic Investigation;2023-05-22
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