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Congenital Myasthenic Syndrome - COLQ related

Breeds

Relevance Rating: There is some evidence or research available for these breeds

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

General

Disease Name
Congenital Myasthenic Syndrome - COLQ related
Mutation
c.1010T>C
Test Type
Genetic Disease/Disorder
Details
Exercise intolerance (temporarily paralyzed), and muscle weakness. Age of onset reported from a few weeks, up to 4 months of age. Considered rare.
Details 2
Congenital myasthenic syndromes (CMSs) are heterogeneous neuromuscular disorders characterized by skeletal muscle weakness caused by disruption of signal transmission across the neuromuscular junction (NMJ). CMSs are rarely encountered in veterinary medicine... Labrador Retriever littermates with an early onset of marked generalized muscle weakness. (Rinz et al, 2014)
Published
Rinz, C.J., Levine, J., Minor, K.M., Humphries, H.D., Lara, R., Starr-Moss, A.N., Guo, L.T., Williams, D.C., Shelton, G.D., Clark, L.A. : A COLQ Missense Mutation in Labrador Retrievers Having Congenital Myasthenic Syndrome. PLoS One 9:e106425, 2014. Pubmed reference: 25166616. DOI: 10.1371/journal.pone.0106425.
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