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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Congenital myasthenic syndrome of Brahman cattle in South Africa.

A congenital myasthenic syndrome in Brahman cattle is caused by a homozygous 20 base pair deletion (470del20) in the gene coding for the epsilon subunit of the acetylcholine receptor at the neuromuscular junction. It causes a progressive muscle weakness starting either at birth or within the first month. A PCR-based DNA test, using blood or semen stored on FTA paper, was developed and validated; the test makes it possible to differentiate rapidly and accurately between homozygous wild-type, heterozygous and homozygous affected animals. Preliminary testing of Brahman cattle in South Africa has revealed several carrier animals, some of them influential animals in the breeding population.[1]


  1. Congenital myasthenic syndrome of Brahman cattle in South Africa. Thompson, P.N., Steinlein, O.K., Harper, C.K., Kraner, S., Sieb, J.P., Guthrie, A.J. Vet. Rec. (2003) [Pubmed]
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