2023
DOI: 10.1111/jvim.16837
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Hereditary myotonia in cats associated with a new homozygous missense variant p.Ala331Pro in the muscle chloride channel ClC‐1

Sílvia Corrêa,
Roberta Martins Basso,
Fabricio Moreira Cerri
et al.

Abstract: Three‐related cats were evaluated for a history of short‐strided gait and temporary recumbency after startle. Neurological examination, electromyography (EMG), muscle biopsies, and a chloride voltage‐gated channel 1 (CLCN1) molecular study were performed. Clinically, all 3 cats presented myotonia with warm‐up phenomenon and myotonic discharges during EMG examination. Muscle biopsies showed normal muscle architecture and variation in the diameter of myofiber size with the presence of numerous hypertrophic fiber… Show more

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