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Congenital Myasthenic Syndrome - CHRNE related

Breed: Miniature Pinscher


Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful for these breeds


Disease Name
Congenital Myasthenic Syndrome - CHRNE related
Mutation 2
Mutation 3
Test Type
Genetic Disease/Disorder
Severe exercise-induced weakness. Age of onset from 4 weeks. Pups often sadly euthanized before 8 weeks of age.
Details 2
Congenital myasthenic syndromes (CMSs) are a group of rare genetic disorders of the neuromuscular junction resulting in structural or functional causes of fatigable weakness that usually begins early in life... CMS was first recognized in dogs in 1974 as an autosomal recessive trait in Jack Russell Terriers (JRTs). (Rinz et al 2015)
Rinz, C.J., Lennon, V.A., James, F., Thoreson, J.B., Tsai, K.L., Starr-Moss, A.N., Humphries, H.D., Guo, L.T., Palmer, A.C., Clark, L.A., Shelton, G.D. : A CHRNE frameshift mutation causes congenital myasthenic syndrome in young Jack Russell Terriers. Neuromuscul Disord 25:921-7, 2015. Pubmed reference: 26429099. DOI: 10.1016/j.nmd.2015.09.005.

Breed Specific Info

Researched Breeds
Jack Russell Terrier
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