A CHRNE frameshift mutation causes congenital myasthenic syndrome in young Jack Russell Terriers

Highlights • Congenital myasthenic syndromes (CMS) are rare in veterinary medicine. • A CMS was first identified in Jack Russell Terrier (JRT) puppies in the 1970s. • A frameshift mutation in CHRNE is present in affected JRTs. • The mutation in CHRNE has persisted in the JRT breed for over 4 decades...

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Veröffentlicht in:	Neuromuscular disorders : NMD 2015-12, Vol.25 (12), p.921-927
Hauptverfasser:	Rinz, Caitlin J, Lennon, Vanda A, James, Fiona, Thoreson, James B, Tsai, Kate L, Starr-Moss, Alison N, Humphries, H. Dale, Guo, Ling T, Palmer, Anthony C, Clark, Leigh Anne, Shelton, G. Diane
Format:	Artikel
Sprache:	eng
Schlagworte:	Animal model Animals Canine Dogs Frameshift Mutation Intercostal Muscles - pathology Male Muscle nicotinic acetylcholine receptor Myasthenia gravis Myasthenic Syndromes, Congenital - genetics Myasthenic Syndromes, Congenital - pathology Myasthenic Syndromes, Congenital - physiopathology Neurology Neuromuscular junction Receptors, Nicotinic - genetics
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