Genetic Test Now Available for Congenital Myasthenic Syndrome in Young Labrador Retriever Puppies
Contributed by Dr. Leigh Anne Clark Clemson University Clemson, South Carolina
Congenital Myasthenic Syndrome (CMS) is an inherited neuromuscular disorder that presents with severe generalized weakness in Labrador Retriever puppies at approximately 6-weeks of age. CMS is inherited in an autosomal recessive fashion and is caused by a single nucleotide change in the gene COLQ. Heterozygous carriers of the mutation do not exhibit any clinical signs of the disorder. A genetic test to identify carriers is available. For information about genetic testing please email Dr. Clark (lclark4@clemson.edu). Click here to read the paper describing CMS in Labrador retrievers and the discovery of the causative mutation. The abstract for the paper is shown below:
