6. MYOTONIC SYNDROMES (Return to Disease group)
Disease phenotype
Item in this table
References
Gene symbol (chromosome)
protein
Myotonic, dystrophy (Steinert) - (AD)
6.1
Renwick JH, Bundey SE, Ferguson-Smith MA, Izatt MM. Confirmation of linkage of the loci for myotonic dystrophy and ABH secretion. J Med Genet. 1971 Dec;8(4):407-16. (1568252)
Friedrich U, Brunner H, Smeets D, Lambermon E, Ropers HH. Three-point linkage analysis employing C3 and 19cen markers assigns the myotonic dystrophy gene to 19q. Hum Genet. 1987 Mar;75(3):291-3. (1546326 )
Harley HG, Brook JD, Rundle SA, Crow S, Reardon W, Buckler AJ, Harper PS, Housman DE, Shaw DJ. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature. 1992 Feb 6;355(6360):545-6. (1346923)
Buxton J, Shelbourne P, Davies J, Jones C, Van Tongeren T, Aslanidis C, de Jong P, Jansen G, Anvret M, Riley B, et al. Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature. 1992 Feb 6;355(6360):547-8. (1346924)
Mahadevan M, Tsilfidis C, Sabourin L, Shutler G, Amemiya C, Jansen G, Neville C, Narang M, Barcelo J, O'Hoy K, et al. Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene. Science. 1992 Mar 6;255(5049):1253-5. (1346925 )
Brook JD, McCurrach ME, Harley HG, Buckler AJ, Church D, Aburatani H, Hunter K, Stanton VP, Thirion JP, Hudson T, et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member. Cell. 1992 Apr 17;69(2):385. (1546325)
Aslanidis, C.; Jansen, G.; Amemiya, C.; Shutler, G.; Mahadevan, T.; Tsilfidis, C.; Chen, C.; Alleman, J.; Wormskamp, N. G. M.; Vooijs, M.; Buxton, J.; Johnson, K.; Smeets, H. J. M.; Lennon, G. G.; Carrano, A. V.; Korneluk, R. G.; Wieringa, B.; de Jong, P. J. : Cloning of the essential myotonic dystrophy region and mapping of the putative defect. Nature 355: 548-551, 1992. (2881880)
Fu, Y.-H.; Pizzuti, A.; Fenwick, R. G., Jr.; King, J.; Rajnarayan, S.; Dunne, P. W.; Dubel, J.; Nasser, G. A.; Ashizawa, T.; de Jong, P.; Wieringa, B.; Korneluk, R.; Perryman, M. B.; Epstein, H. F.; Caskey, C. T. : An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 255: 1256-1258, 1992. (5149523)
DMPK (19q13.3)
Myotonic dystrophy protein kinase
Myotonic dystrophy type 2 - (AD)
6.2
Ranum LP, Rasmussen PF, Benzow KA, Koob MD, Day JW. Genetic mapping of a second myotonic dystrophy locus. Nat Genet. 1998 Jun;19(2):196-8. (11486088)
Liquori CL, Ricker K, Moseley ML, Jacobsen JF, Kress W, Naylor SL, Day JW, Ranum LP. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science. 2001 Aug 3;293(5531):864-7. (9620781)
CNBP (3q21.3)
Cellular nucleic acid-binding protein
Myotonia, dominant (Thomsen disease) - (AD)
6.3
Koch, M.; Harley, H.; Sarfarazi, M.; Bender, K.; Wienker, T.; Zoll, B.; Harper, P. S. : Myotonia congenita (Thomsen's disease) excluded from the region of the myotonic dystrophy locus on chromosome 19. Hum. Genet. 82: 163-166, 1989. (7981750)
Koch MC, Steinmeyer K, Lorenz C, Ricker K, Wolf F, Otto M, Zoll B, Lehmann-Horn F, Grzeschik KH, Jentsch TJ. The skeletal muscle chloride channel in dominant and recessive human myotonia. Science. 1992 Aug 7;257(5071):797-800. (1379744)
George AL Jr, Crackower MA, Abdalla JA, Hudson AJ, Ebers GC. Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita). Nat Genet. 1993 Apr;3(4):305-10. (2722193)
CLCN1 (7q35)
Chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant)
Myotonia, recessive (Becker disease) - (AR)
6.4
Koch MC, Steinmeyer K, Lorenz C, Ricker K, Wolf F, Otto M, Zoll B, Lehmann-Horn F, Grzeschik KH, Jentsch TJ. The skeletal muscle chloride channel in dominant and recessive human myotonia. Science. 1992 Aug 7;257(5071):797-800. (1379744)
CLCN1 (7q35)
Chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant)
Rippling muscle disease - (AD)
6.5
Stephan DA, Buist NR, Chittenden AB, Ricker K, Zhou J, Hoffman EP. A rippling muscle disease gene is localized to 1q41: evidence for multiple genes. Neurology. 1994 Oct;44(10):1915-20. (7936247)
? - (1q41)
Rippling muscle disease - (AD)
6.6
Stephan DA, Buist NR, Chittenden AB, Ricker K, Zhou J, Hoffman EP. A rippling muscle disease gene is localized to 1q41: evidence for multiple genes. Neurology. 1994 Oct;44(10):1915-20. (11431690)
Betz, R. C.; Schoser, B. G. H.; Kasper, D.; Ricker, K.; Ramirez, A.; Stein, V.; Torbergsen, T.; Lee, Y.-A.; Nothen, M. M.; Wienker, T. F.; Malin, J.-P.; Propping, P.; Reis, A.; Mortier, W.; Jentsch, T. J.; Vorgerd, M.; Kubisch, C. : Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease. Nature Genet. 28: 218-219, 2001. (7936247)
CAV3 (3p25)
Caveolin 3
Rippling muscle disease, recessive - (AR)
6.7
Kubisch, C.; Schoser, B. G. H.; v. During, M.; Betz, R. C.; Goebel, H.-H.; Zahn, S.; Ehrbrecht, A.; Aasly, J.; Schroers, A.; Popovic, N.; Lochmuller, H.; Schroder, J. M.; Bruning, T.; Malin, J.-P.; Fricke, B.; Meinck, H.-M.; Torbergsen, T.; Engels, H.; Voss, B.; Vorgerd, M. : Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease. Ann. Neurol. 53: 512-520, 2003. (12666119)
Kubisch, C.; Ketelsen, U.-P.; Goebel, I.; Omran, H. :PubMed ID : 12666119 2. Kubisch, C.; Ketelsen, U.-P.; Goebel, I.; Omran, H. : Autosomal recessive rippling muscle disease with homozygous CAV3 mutations. (Letter) Ann. Neurol. 57: -304, 2005. (15668980)
CAV3 (3p25)
Caveolin 3
Schwartz-Jampel syndrome - (AR)
6.8
Nicole S, Ben Hamida C, Beighton P, Bakouri S, Belal S, Romero N, Viljoen D, Ponsot G, Sammoud A, Weissenbach J, et al. Localization of the Schwartz-Jampel syndrome (SJS) locus to chromosome 1p34-p36.1 by homozygosity mapping. Hum Mol Genet. 1995 Sep;4(9):1633-6. (8541852)
HSPG2 (1p36.1-p34)
Perlecan
Brody disease - (AR AD)
6.9
Odermatt A, Taschner PE, Khanna VK, Busch HF, Karpati G, Jablecki CK, Breuning MH, MacLennan DH. Mutations in the gene-encoding SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase, are associated with Brody disease. Nat Genet. 1996 Oct;14(2):191-4. (8841193)
ATP2A1 (16p12.1)
ATPase, Ca++ transporting, fast twitch 1