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

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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Beschreibung
Zusammenfassung: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.
ISSN:0960-8966
1873-2364
DOI:10.1016/j.nmd.2015.09.005