The c.126C>A(p.(Cys42Ter)) SLC7A10 nonsense variant is a candidate causative variant for paradoxical pseudomyotonia in English Cocker and Springer Spaniels.
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DOI: 10.1111/age.13312
Abstract: Paradoxical pseudomyotonia has previously been described in the English Cocker Spaniel (ECS) and English Springer Spaniel (ESS) breeds, without the identification of potentially causative variants. This disease is characterised by episodes of exercise-induced generalised myotonic-like… read more here.
Keywords: paradoxical pseudomyotonia; english cocker; 126c cys42ter; cys42ter slc7a10 ... See more keywords