The detail information of Myotonia
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: 1999

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
CB15 Australian Cattle Dog 45.7-50.8 cm (male), 43.2-48.3 cm (female) 15.9-22.7 kg Australia
CB75 Chow Chow 43.2-50.8 cm 20.4-31.8 kg China
CB119 Great Dane 76.2-86.4 cm (male), 71.1-81.3 cm (female) 54.4-90.7 kg (male), 44.9-59 kg (female) Germany
CB161 Miniature Schnauzer 30.5-35.6 cm 5-9.1 kg Germany
CB234 Staffordshire Bull Terrier 35.6-40.6 cm 12.7-17.2 kg (male), 10.9-15.4 kg (female) United Kingdom (England)
Associated Gene
There are no associated genes.
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.
2018 Quitt,P.R.,Hytönen,M.K.,Matiasek,K.,Rosati,M.,Fischer,A.,Lohi,H.: :
Myotonia congenita in a Labrador Retriever with truncated CLCN1. Neuromuscul Disord 28:597-605, 2018.
Pubmed reference: 29934119 . DOI: 10.1016/j.nmd.2018.05.002 .
2013 Broeckx,B.J.,Coopman,F.,Verhoeven,G.E.,VanHaeringen,W.,vandeGoor,L.,Bosmans,T.,Gielen,I.,Saunders,J.H.,Soetaert,S.S.,VanBree,H.,VanNeste,C.,VanNieuwerburgh,F.,VanRyssen,B.,Verelst,E.,VanSteendam,K.,Deforce,D.: :
The prevalence of nine genetic disorders in a dog population from Belgium, the Netherlands and Germany. PLoS One 8:e74811, 2013.
Pubmed reference: 24069350 . DOI: 10.1371/journal.pone.0074811 .
2009 Lobetti,RG.: :
Myotonia congenita in a Jack Russell terrier. J S Afr Vet Assoc 80:106-7, 2009.
Pubmed reference: 19831273 .
2007 Finnigan,DF.,Hanna,WJ.,Poma,R.,Bendall,AJ.: :
A novel mutation of the CLCN1 gene associated with myotonia hereditaria in an Australian cattle dog. J Vet Intern Med 21:458-63, 2007.
Pubmed reference: 17552451 .
2003 Bhalerao,D.R.,Rajpurochit,Y.,Vite,C.H.,Giger,U.: :
Detection of a genetic mutation for myotonia congenita among Miniature Schnauzers and identification of a common carrier ancestor (vol 63, pg 1443, 2002) American Journal of Veterinary Research 64:25, 2003.
2002 Bhalerao,D.R.,Rajpurohit,Y.,Vite,C.H.,Giger,U.: :
Detection of a genetic mutation for myotonia congenita among Miniature Schnauzers and identification of a common carrier ancestor American Journal of Veterinary Research 63:1443-1447, 2002.
Pubmed reference: 12371774 .
2000 Gracis,M.,Keith,D.,Vite,C.H.: :
Dental and craniofacial findings in eight miniature schnauzer dogs affected by myotonia congenita: preliminary results. J Vet Dent 17:119-27, 2000.
Pubmed reference: 11968937 .
1999 Rhodes,T.H.,Vite,C.H.,Giger,U.,Patterson,D.F.,Fahlke,C.,George,A.L.: :
A missense mutation in canine ClC-1 causes recessive myotonia congenita in the dog FEBS Letters 456:54-58, 1999.
Pubmed reference: 10452529 .
1999 Vite,C.H.,Melniczek,J.,Patterson,D.,Giger,U.: :
Congenital myotonic myopathy in the miniature schnauzer: An autosomal recessive trait Journal of Heredity 90:578-580, 1999.
Pubmed reference: 10544501 .
1998 Smith,B.F.,Braund,K.G.,Steiss,J.E.,Simpson,S.T.,Cox,N.R.,Sorjonen,D.C.: :
Possible adult onset myotonic dystrophy in a boxer Journal of Veterinary Internal Medicine 12:120, 1998.
Pubmed reference: 9560770 .
1998 Swinney,G.B.,Foster,S.F.,Church,D.B.,Malik,R.: :
Myotonia associated with hyperadrenocorticism in two dogs Australian Veterinary Journal 76:722-724, 1998.
Pubmed reference: 9862060 .
1998 Vite,C.H.,Cozzi,F.,Rich,M.,Klide,A.K.,Volk,S.W.,Lombardo,R.: :
Myotonic myopathy in a miniature Schnauzer: case report and data suggesting abnormal chloride conductance across the muscle membrane. J Vet Intern Med 12:394-7, 1998.
Pubmed reference: 9773418 .
1995 Hill,S.L.,Shelton,G.D.,Lenehan,T.M.: :
Myotonia in a cocker spaniel Journal of the American Animal Hospital Association 31:506-509, 1995.
Pubmed reference: 8581546 .
1991 Poncelet,L.,Fontaine,J.,Balligand,M.: :
Myotonia in two aged poodles. Vet Rec 128:599, 1991.
Pubmed reference: 1897093 .
1989 Kortz,G.: :
Canine myotonia. Semin Vet Med Surg (Small Anim) 4:141-5, 1989.
Pubmed reference: 2682887 .
1987 McKerrell,R.E.: :
Myotonia in man and animals: confusing comparisons. Equine Vet J 19:266-7, 1987.
Pubmed reference: 3622451 .
1974 Wentink,G.H.,Hartman,W.,Koeman,J.P.: :
Three cases of myotonia in a family of Chows Tijdschrift voor Diergeneeskunde 99:729-731, 1974.
Pubmed reference: 4536400 .