Associated Papers
Identification of a crosstalk between ClC-1 C-terminal CBS domains and the transmembrane region.
Gaitán-Peñas H et al.
The Journal of Physiology, 2025
Myotonia Congenita in Australian Merino Sheep with a Missense Variant in CLCN1.
Manning LK et al.
Animals : an Open Access Journal From Mdpi, 2024
39765607 (PubMed )
Supplement: animals-14-03703-s001.zip › Supplementary_Tables_and_Figures.xlsx › Table_S4
A missense mutation in the skeletal muscle chloride channel 1 (CLCN1) as candidate causal mutation for congenital myotonia in a New Forest pony.
Wijnberg ID et al.
Neuromuscular Disorders : Nmd, 2012
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