The detail information of Myasthenic syndrome, congenital, CHRNE-related
OMIA Basic Information

Possible human homologues (MIM numbers):

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Year key mutation first reported: 2015

Species-specific name: -

Species-specific symbol: -

More detail information can see in

Associated Breeds
iDog Breed Number Breed Name Personality Height Weight History Breed Source
CB361 Kooikerhondje(Little Cager Dog) 35.6-40.6 cm Netherlands
Associated Gene
Symbol Description Species Position Other Links
CHRNE cholinergic receptor, nicotinic, epsilon (muscle) Canis lupus familiaris Chr5 : 31801741 - 31815685 Homologene, Ensembl, NCBI gene
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2020 Mignan,T.,Targett,M.,Lowrie,M.: :
Classification of myasthenia gravis and congenital myasthenic syndromes in dogs and cats. J Vet Intern Med :, 2020.
Pubmed reference: 32668077 . DOI: 10.1111/jvim.15855 .
2017 Herder,V.,Ciurkiewicz,M.,Baumgärtner,W.,Jagannathan,V.,Leeb,T.: :
Frame-shift variant in the CHRNE gene in a juvenile dog with suspected myasthenia gravis-like disease. Anim Genet 48:625, 2017.
Pubmed reference: 28508416 . DOI: 10.1111/age.12558 .
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 .
1984 Oda,K.,Lambert,E.H.,Lennon,V.A.,Palmer,A.C.: :
Congenital canine myasthenia gravis: I. Deficient junctional acetylcholine receptors. Muscle Nerve 7:705-16, 1984.
Pubmed reference: 6543919 . DOI: 10.1002/mus.880070904 .
1984 Oda,K.,Lennon,V.A.,Lambert,E.H.,Palmer,A.C.: :
Congenital canine myasthenia gravis: II. Acetylcholine receptor metabolism. Muscle Nerve 7:717-24, 1984.
Pubmed reference: 6543920 . DOI: 10.1002/mus.880070905 .
1984 Wallace,M.E.,Palmer,A.C.: :
Recessive mode of inheritance in myasthenia gravis in the Jack Russell terrier. Vet Rec 114:350, 1984.
Pubmed reference: 6719791 .
1978 Palmer,A.C.,Goodyear,J.V.: :
Congenital myasthenia in the Jack Russel Terrier (correspondence) Veterinary Record 103:433-434, 1978.
Pubmed reference: 741601 .
1974 Palmer,A.C.,Barker,J.: :
Myasthenia in the dog. Vet Rec 95:452-4, 1974.
Pubmed reference: 4446286 .