A novel mutation of the CLCN1 gene associated with myotonia hereditaria in an Australian cattle dog

Journal of Veterinary Internal Medicine

Volumn 21, Issue 3, 2007, Pages 458-463

  Finnigan, Daniel F ^a   Hanna, W J Brad ^a   Poma, Roberto ^a   Bendall, Andrew J ^a  

^a UNIVERSITY OF GUELPH   (Canada)

Author keywords

Blue Heeler; Canine myotonia; Ion channel disease; Muscle hypertrophy; Voltage gated chloride channel

Indexed keywords

CHLORIDE CHANNEL;

AMINO ACID SEQUENCE; ANIMAL; ANIMAL DISEASE; ARTICLE; CASE REPORT; DOG; DOG DISEASE; DOMINANT GENE; FEMALE; GENETICS; METABOLISM; MOLECULAR GENETICS; MUSCLE; MUTATION; MYOTONIA; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PEDIGREE; RECESSIVE GENE; SEQUENCE HOMOLOGY; SPECIES DIFFERENCE;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CHLORIDE CHANNELS; DOG DISEASES; DOGS; FEMALE; GENES, DOMINANT; GENES, RECESSIVE; MOLECULAR SEQUENCE DATA; MUSCLES; MUTATION; MYOTONIA; PEDIGREE; SEQUENCE HOMOLOGY, AMINO ACID; SPECIES SPECIFICITY;

ANIMALIA; BOS; CANIS FAMILIARIS; CAPRA HIRCUS; MUS;

EID: 34249339369     PISSN: 08916640     EISSN: None     Source Type: Journal    
DOI: 10.1892/0891-6640(2007)21[458:ANMOTC]2.0.CO;2     Document Type: Article

References (23)

1. Bryant SH. Cable properties of external intercostal muscle fibers from myotonic and nonmyotonic goats. J Physiol 1969;204:539-550.
2. Bryant SH, Morales-Aguilera A. Chloride conductance in normal and myotonic muscle fibers and the action of monocarboxylic aromatic acids. J Physiol (Lond) 1971;219:367-383.
3. Lipicky RJ, Bryant SH, Salmon JH. Cable parameters, sodium, potassium, chloride, and water content, and potassium efflux in isolated external intercostal muscle of normal volunteers and patients with myotonia congenita. J Clin Invest 1971;50:2091-2103.
4. Steinmeyer K, Ortland C, Jentsch TJ. Primary structure and functional expression of a developmentally regulated skeletal muscle chloride channel. Nature 1991;354:301-304.
5. Koch MC, Steinmeyer K, Lorenz C, et al. The skeletal muscle chloride channel in dominant and recessive human myotonia. Science 1992;257:797-800.
6. Steinmeyer K, Lorenz C, Pusch M, et al. Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita. EMBO J 1994;14:737-743.
7. Dutzler A, Campbell EB, Cadene M, et al. X-ray structure of a ClC chloride channel at 3.0 A reveals the molecular basis of anion selectivity. Nature 2002;415:287-294.
8. Wu FF, Ryan A, Devaney J, et al. Novel CLCN1 mutations with unique clinical and electrophysiological consequences. Brain 2002;125:2392-2407.
9. Steinmeyer K, Klocke R, Ortland C, et al. Inactivation of muscle chloride channel by transposon insertion in myotonic mice. Nature 1991;354:304-308.
10. Beck CL, Fahlke C, George Jr. AL. Molecular basis for decreased muscle chloride conductance in the myotonic goat. Proc Natl Acad Sci 1996;93:11248-11252.
11. Rhodes TH, Vite CH, Giger U, et al. A missense mutation in canine ClC-1 causes recessive myotonia congenita in the dog. FEBS Lett 1999;456:54-58.
12. Coates JR, Kline KL. Congenital and inherited neurologie disorders in dogs and cats. In: Braund KG, Schrader SC, eds. Current Veterinary Therapy XII - Small Animal Practice, 12th ed. Philadelphia, PA: WB Saunders; 1995:1111-1120.
13. Vite CH. Myotonia and disorders of altered muscle cell membrane excitability. Vet Clinics North America: Small Animal Practice 2002;32:169-187.
14. Jentsch TJ, Friedrich T, Schriever A, et al. The CLC chloride channel family. Pflugers Arch 1999;437:783-795.
15. Colding-Jørgensen E. Phenotypic variability in myotonia congenita. Muscle Nerve 2005;32:19-34.
16. George AL, Sloan-Brown K, Fenichel GM, et al. Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita. Hum Mol Genet 1994;3:2071-2072.
17. Zhang J, George Jr. AL, Griggs RC, et al. Mutations in the human skeletal muscle chloride channel gene (CLCN1) associated with dominant and recessive myotonia congenita. Neurology 1996;47:993-998.
18. Papponen H, Toppinen T, Baumann P, et al. Founder mutations and the high prevalence of myotonia congenita in northern Finland. Neurology 1999;53:297-302.
19. Plassart-Schiess E, Gervais A, Eymard B, et al. Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance. Neurology 1998;50:1176-1179.
20. Sangiuolo F, Botta A, Mesoraca A, et al. Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita. Hum Mutat 1998;118.
21. Meyer-Kleine C, Steinmeyer K, Ricker K, et al. Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia. Am J Hum Genet 1995;57:1325-1334.
22. Dunø M, Colding-Jørgensen E, Grunnet M, et al. Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype. Eur J Hum Genet 2005;12:738-743.
23. Lindblad-Toh K, Wade CM, Mikkelsen TS, et al. Genome sequence, comparative analysis and haplotype structure of the domestic dog. Nature 2005;438:803-819.