Ovine congenital myotonia associated with a mutation in the muscle chloride channel gene

The Veterinary Journal
Luis V MonteagudoLuis Miguel Ferrer

Abstract

Congenital myotonia (CM) is characterised by a delay in muscular relaxation after sudden contractions. In a recent outbreak of ovine CM affecting 1% of new-born lambs in a Spanish flock of Rasa Aragonesa sheep, a comparative pathology approach was taken: because a mutation in the muscle chloride channel gene (CLCN1) was identified as responsible for CM in goats, the same gene was sequenced in the affected lambs. A non-synonymous single nucleotide variation (SNV) in the second exon of CLCN1 was associated with this pathology. Rams carrying this SNV heterozygously were thereafter identified and replaced by wild-type homozygous young males. No additional CM cases were detected in subsequent lambing seasons.

References

Feb 18, 1993·The New England Journal of Medicine·L J PtacekR C Griggs
Oct 1, 1996·Proceedings of the National Academy of Sciences of the United States of America·C L BeckA L George

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Citations

May 31, 2018·Physiological Reviews·Thomas J Jentsch, Michael Pusch
Nov 2, 2019·Scientific Reports·C E T AraújoA S Borges

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