Detection of a genetic mutation for myotonia congenita among Miniature Schnauzers and identification of a common carrier ancestor

American Journal of Veterinary Research

Volumn 63, Issue 10, 2002, Pages 1443-1447

  Bhalerao, Dilip P ^a   Rajpurohit, Yashoda ^a   Vite, Charles H ^a   Giger, Urs ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CHLORIDE; CHLORIDE CHANNEL; POLYACRYLAMIDE GEL; RESTRICTION ENDONUCLEASE;

ALLELE; ARTICLE; AUSTRALIA; CANADA; CONTROLLED STUDY; DOG; ENZYME DEGRADATION; EUROPE; FEMALE; GENE AMPLIFICATION; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; HETEROZYGOTE DETECTION; MALE; MOLECULAR GENETICS; NONHUMAN; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; PROGENOTE; SKELETAL MUSCLE; THOMSEN DISEASE; UNITED STATES;

ANIMALIA; CANIS FAMILIARIS;

EID: 0036794567     PISSN: 00029645     EISSN: None     Source Type: Journal    
DOI: 10.2460/ajvr.2002.63.1443     Document Type: Article

References (27)

1. Barchi RL. The pathophysiology of excitation in skeletal muscle. In: Walton J, Karpati G, Hilton-Jones J, eds. Disorders of voluntary muscle. Edinburgh, UK: Churchill Livingstone Inc, 1994; 415-436.
2. Hoffman EP, Lehmann-Horn F, Rudel R. Overexcited or inactive: ion channels in muscle disease. Cell 1995;80:681-686.
3. Steinmeyer K, Klocke R, Ortland C, et al. Inactivation of muscle chloride channel by transposon insertion in myotonic mice. Nature 1991;354:304-308.
4. Koch MC, Steinmeyer K, Lorenz, et al. Tight linkage of recessive and dominant forms of human myotonia to skeletal muscle chloride gene. Science 1992;257:797-800.
5. Moore GA, Dyer KR, Dyer RM, et al. Autosomal recessive myotonia congenita in sheep. Genet Selection Evolution 1997;29:291-294.
6. Beck CL, Fahlke CH, George AL Jr. Molecular basis for decreased muscle chloride conductance in the myotonic goat. Proc Natl Acad Sci U S A 1996;93:11248-11252.
7. Steinberg SA, Botelho S. Myotonia in a horse. Science 1962;137:979-980.
8. Toll J, Cooper B, Altschul M. Congenital myotonia in 2 domestic cats. J Vet Intern Med 1998;12:116-119.
9. Griffiths IR, Duncan ID. Myotonia in the dog: a report of four cases. Vet Rec 1973;93:184-188.
10. Jones BR, Anderson LJ, Barnes GRG, et al. Myotonia in related Chow Chow dogs. N Z Vet J 1977;25:217-220.
11. Shires PK, Nafe LA, Hulse DA. Myotonia in a Staffordshire terrier. J Am Vet Med Assoc 1983;183:229-232.
12. Honhold N, Smith DA. Myotonia in the Great Dane. Vet Rec 1986;119:162.
13. Vite CH, Cozzi F, Rich M, et al. Myotonic myopathy in a miniature schnauzer: case report and data suggesting abnormal chloride conductance across the muscle membrane. J Vet Intern Med 1998;12:394-397.
14. Vite CH, Melniczek J, Patterson DF, et al. Congenital myotonic myopathy in the miniature schnauzer: an autosomal recessive trait. J Hered 1999;90:578-580.
15. Gracis M, Keith D, Vite CH. Dental and craniofacial findings in eight miniature schnauzer dogs affected by myotonia congenita: preliminary results. J Vet Dent 2000;17:119-127.
16. Rhodes TH, Vite CH, Giger U, et al. A missense mutation in canine ClC causes recessive myotonia congenita in the dog. FEBS Lett 1999;456:54-58.
17. Patterson DF. Companion animal medicine in the age of medical genetics. J Vet Intern Med 2000;14:1-9.
18. Vite CH. Myotonia and disorders of altered muscle cell membrane excitability. Vet Clin North Am Small Anim Pract 2002;32:169-187.
19. Jen J, Ptacek L. Channelopathies: episodic disorders of the nervous system. In: Scriver CR, Beaudet AL, Valle D, et al, eds. The metabolic and molecular bases of inherited disease. 8th ed. New York: McGraw-Hill Book Co, 2001;5223-5238.
20. Powell RL, Norman HD, Cowan CM. Relationship of bovine leukocyte adhesion deficiency with genetic merit for performance traits. J Dairy Sci 1996;79:895-899.
21. Pullen RP, Somberg RL, Felsburg PJ, et al. X-Linked severe combined immunodeficiency in a family of Cardigan Welsh Corgis. J Am Anim Hosp Assoc 1997;33:494-499.
22. Skelly BJ, Sargan DR, Winchester BG, et al. Genomic screening for fucosidosis in English Springer Spaniels. Am J Vet Res 1999;60:726-729.
23. Venta PJ, Li J, Yuzbasiyan-Gurkan V, et al. Mutation causing von Willebrand's disease in Scottish Terriers. J Vet Intern Med 2000; 14:10-19.
24. Peterson-Jones SM, Clements PJM, Barnett KC. Incidence of the gene mutation causal for rod-cone dysplasia type 1 in Irish setters in the UK. J Small Anim Pract 1995;36:310-314.
25. Ubbink GJ, Van den Ingh TS, Yuzbasiyan-Gurkan V, et al. Population dynamics of inherited copper toxicosis in Dutch Bedlington Terriers (1977-1997). J Vet Intern Med 2000;14:172-176.
26. Kijas JMH, Juneja RK, Gafvert S, et al. Detection of the causal mutation for canine leukocyte adhesion deficiency (CLAD) using pyrosequencing. Anim Genet 2000;31:326-328.
27. Foureman P, Whitley M, Giger U. Canine leukocyte adhesion deficiency: presence of the Cys36Ser β-2 integrin mutation in an affected U. S. Irish Setter cross-bred dog and in U. S. Irish Red and White Setters. J Vet Intern Med 2002;16:in press.