A missense mutation in the skeletal muscle chloride channel 1 (CLCN1) as candidate causal mutation for congenital myotonia in a New Forest pony

2011/12/23 by Inge D. Wijnberg, Marta Owczarek-Lipska, Marta Owczarek‐Lipska +7 · 1 citation
Biochemistry, Genetics and Molecular Biology · Medicine · #Biology #Cardiac electrophysiology and arrhythmias #Cardiomyopathy and Myosin Studies #Foal #Gene #Genetics #Internal medicine #Ion channel regulation and function #Medicine #Missense mutation #Muscle stiffness #Mutation #Myotonia #Myotonia congenita #Myotonic dystrophy #Pony

paper · doi:10.1016/j.nmd.2011.10.001

openalex publication_date 2011/12/23 · crossref created 2011/12/23 · crossref issued 2012/04/01 · crossref published 2012/04/01 · crossref published-print 2012/04/01 · openalex created_date 2025/10/10 · crossref deposited 2025/10/18 · crossref indexed 2026/02/14 · openalex updated_date 2026/07/22

Citations

• Molecular basis for decreased muscle chloride conductance in the myotonic goat.

Cited by

• New Forest pony [wikipedia]