Citations for
1DM1, DMPK
Staufen1 Impairs Stress Granule Formation in Skeletal Muscle Cells from Myotonic Dystrophy type 1 Patients.
Ravel-Chapuis A, Gunnewiek AK, Bélanger G, Parks TE, Côté J, Jasmin BJ.
Mol Biol Cell ol Biol Cell. 2016 Mar 30. pii: mbc.E15-06-0356. [Epub ahead of print] 2016
2DMPK
Genome modification leads to phenotype reversal in human myotonic dystrophy type 1 induced pluripotent stem cell-derived neural stem cells.
Xia G, Gao Y, Jin S, Subramony SH, Terada N, Ranum LP, Swanson MS, Ashizawa T.
Stem Cells 33(6):1829-38. doi: 10.1002/stem.1970. 2015
3DDX6, DMPK
DDX6 regulates sequestered nuclear CUG-expanded DMPK-mRNA in dystrophia myotonica type 1.
Pettersson OJ, Aagaard L, Andrejeva D, Thomsen R, Jensen TG, Damgaard CK.
Nucleic Acids Res 42(11):7186-200. doi: 10.1093/nar/gku352. Epub 2014 May 3. 2014
4DMPK
Longitudinal in vivo muscle function analysis of the DMSXL mouse model of myotonic dystrophy type 1.
Decostre V, Vignaud A, Matot B, Huguet A, Ledoux I, Bertil E, Gjata B, Carlier PG, Gourdon G, Hogrel JY.
Neuromuscul Disord 23(12):1016-25. doi: 10.1016/j.nmd.2013.07.014. Epub 2013 Aug 12. 2013
5DM1, DMPK
Development of a genomic DNA reference material panel for myotonic dystrophy type 1 (DM1) genetic testing.
Kalman L, Tarleton J, Hitch M, Hegde M, Hjelm N, Berry-Kravis E, Zhou L, Hilbert JE, Luebbe EA, Moxley RT 3rd, Toji L.
J Mol Diagn 15(4):518-25. doi: 10.1016/j.jmoldx.2013.03.008. Epub 2013 May 13. 2013
6DMPK, LATS2
Phosphorylation target site specificity for AGC kinases DMPK E and Lats2.
Gerrits L, Venselaar H, Wieringa B, Wansink DG, Hendriks WJ.
J Cell Biochem 113(6):2126-35. doi: 10.1002/jcb.24086. 2012
7DM1, DMPK
Targeting nuclear RNA for in vivo correction of myotonic dystrophy.
Wheeler TM, Leger AJ, Pandey SK, MacLeod AR, Nakamori M, Cheng SH, Wentworth BM, Bennett CF, Thornton CA.
Nature 488(7409):111-5. doi: 10.1038/nature11362. 2012
8DM1, DMPK
Altered replication in human cells promotes DMPK (CTG)(n) ˇ (CAG)(n) repeat instability.
Liu G, Chen X, Gao Y, Lewis T, Barthelemy J, Leffak M.
Mol Cell Biol 32(9):1618-32. doi: 10.1128/MCB.06727-11. Epub 2012 Feb 21. 2012
9DM1, DMPK
Expanded CTG repeat demarcates a boundary for abnormal CpG methylation in myotonic dystrophy patient tissues.
López Castel A, Nakamori M, Tomé S, Chitayat D, Gourdon G, Thornton CA, Pearson CE.
Hum Mol Genet 20(1):1-15. Epub 2010 Nov 1. 2011
10DMPK
Myotonic dystrophy protein kinase is critical for nuclear envelope integrity.
Harmon EB, Harmon ML, Larsen TD, Yang J, Glasford JW, Perryman MB.
J Biol Chem. 286(46):40296-306. 2011
11CNBP, DM1, DM2, DMPK
Myotonic dystrophy, when simple repeats reveal complex pathogenic entities: new findings and future challenges.
Sicot G, Gourdon G, Gomes-Pereira M.
Hum Mol Genet 20(R2):R116-23. doi: 10.1093/hmg/ddr343. Epub 2011 Aug 5. Review. 2011
12CELF1, DM1, DMPK, MBNL1
Heart-specific overexpression of CUGBP1 reproduces functional and molecular abnormalities of myotonic dystrophy type 1.
Koshelev M, Sarma S, Price RE, Wehrens XH, Cooper TA.
Hum Mol Genet 19(6):1066-75. Epub 2010 Jan 5. 2010
13DM1, DMPK
Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients.
Braida C, Stefanatos RK, Adam B, Mahajan N, Smeets HJ, Niel F, Goizet C, Arveiler B, Koenig M, Lagier-Tourenne C, Mandel JL, Faber CG, de Die-Smulders CE, Spaans F, Monckton DG.
Hum Mol Genet 19(8):1399-412. Epub 2010 Jan 15.PMID: 20080938 2010
14DM1, DMPK
Tissue- and age-specific DNA replication patterns at the CTG/CAG-expanded human myotonic dystrophy type 1 locus.
Cleary JD, Tomé S, López Castel A, Panigrahi GB, Foiry L, Hagerman KA, Sroka H, Chitayat D, Gourdon G, Pearson CE.
Nat Struct Mol Biol 17(9):1079-87. Epub 2010 Aug 15. 2010
15DM1, DMPK, MBNL1
A simple ligand that selectively targets CUG trinucleotide repeats and inhibits MBNL protein binding.
Arambula JF, Ramisetty SR, Baranger AM, Zimmerman SC.
Proc Natl Acad Sci U S A 106(38):16068-73. Epub 2009 Sep 8.PMID: 19805260 2009
16DM1, DMPK
A tail-anchored myotonic dystrophy protein kinase isoform induces perinuclear clustering of mitochondria, autophagy, and apoptosis.
Oude Ophuis RJ, Wijers M, Bennink MB, van de Loo FA, Fransen JA, Wieringa B, Wansink DG.
PLoS One 4(11):e8024.PMID: 19946639 2009
17DMPK
DMPK protein isoforms are differentially expressed in myogenic and neural cell lineages.
Oude Ophuis RJ, Mulders SA, van Herpen RE, van de Vorstenbosch R, Wieringa B, Wansink DG.
Muscle Nerve 40(4):545-55.PMID: 19626675 2009
18DMPK
Structure of dystrophia myotonica protein kinase.
Elkins JM, Amos A, Niesen FH, Pike AC, Fedorov O, Knapp S.
Protein Sci 18(4):782-91.PMID: 19309729 2009
19CELF1, DMPK, TNF
The RNA-binding protein CUGBP1 regulates stability of tumor necrosis factor mRNA in muscle cells: implications for myotonic dystrophy.
Zhang L, Lee JE, Wilusz J, Wilusz CJ.
J Biol Chem 283(33):22457-63. Epub 2008 Jun 16. 2008
20DM1, DMPK, NXX2-5
RNA toxicity in myotonic muscular dystrophy induces NKX2-5 expression.
Yadava RS, Frenzel-McCardell CD, Yu Q, Srinivasan V, Tucker AL, Puymirat J, Thornton CA, Prall OW, Harvey RP, Mahadevan MS.
Nat Genet 40(1):61-8. Epub 2007 Dec 16. 2008
21DM1, DMPK
The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patients.
Botta A, Rinaldi F, Catalli C, Vergani L, Bonifazi E, Romeo V, Loro E, Viola A, Angelini C, Novelli G.
J Med Genet 45(10):639-46. Epub 2008 Jul 8. 2008
22DM1, DMPK
Correlation among subcortical white matter lesions, intelligence and CTG repeat expansion in classic myotonic dystrophy type 1.
Kuo HC, Hsieh YC, Wang HM, Chuang WL, Huang CC.
Acta Neurol Scand 117(2):101-7.PMID: 18184345 2008
23DM1, DMPK
Familial aggregation of white matter lesions in myotonic dystrophy type 1.
Di Costanzo A, Santoro L, de Cristofaro M, Manganelli F, Di Salle F, Tedeschi G.
Neuromuscul Disord 18(4):299-305. Epub 2008 Mar 11.PMID: 18337099 2008
24DMPK
Myotonic dystrophy protein kinase is expressed in embryonic myocytes and is required for myotube formation.
Harmon EB, Harmon ML, Larsen TD, Paulson AF, Perryman MB.
Dev Dyn. 237(9):2353-66. 2008
25DM1, DMPK
Patients with primary cataract as a genetic pool of DMPK protomutation.
Medica I, Teran N, Volk M, Pfeifer V, Ladavac E, Peterlin B.
J Hum Genet 52(2):123-8. Epub 2006 Dec 5. 2007
26ATP2A1, DM1, DMPK
Molecular mechanisms responsible for aberrant splicing of SERCA1 in myotonic dystrophy type 1.
Hino S, Kondo S, Sekiya H, Saito A, Kanemoto S, Murakami T, Chihara K, Aoki Y, Nakamori M, Takahashi MP, Imaizumi K.
Hum Mol Genet 16(23):2834-43. Epub 2007 Aug 29. 2007
27CNBP, DM1, DM2, DMPK
Myotonic dystrophy: emerging mechanisms for DM1 and DM2.
Cho DH, Tapscott SJ.
Biochim Biophys Acta 1772(2):195-204. Epub 2006 Jun 20. Review. 2007
28CELF1, DMPK, MBNL1
Reversible model of RNA toxicity and cardiac conduction defects in myotonic dystrophy.
Mahadevan MS, Yadava RS, Yu Q, Balijepalli S, Frenzel-McCardell CD, Bourne TD, Phillips LH.
Nat Genet 38(9):1066-70. Epub 2006 Jul 30. 2006
29DMPK
Coiled-coil interactions modulate multimerization, mitochondrial binding and kinase activity of myotonic dystrophy protein kinase splice isoforms.
van Herpen RE, Tjeertes JV, Mulders SA, Oude Ophuis RJ, Wieringa B, Wansink DG.
FEBS J 273(6):1124-36. 2006
30ATP2A1, ATP2A2, DMPK, RYR1
Altered mRNA splicing of the skeletal muscle ryanodine receptor and sarcoplasmic/endoplasmic reticulum Ca2+-ATPase in myotonic dystrophy type 1.
Kimura T, Nakamori M, Lueck JD, Pouliquin P, Aoike F, Fujimura H, Dirksen RT, Takahashi MP, Dulhunty AF, Sakoda S.
Hum Mol Genet 14(15):2189-200. Epub 2005 Jun 22. 2005
31DMPK, DM1
The myotonic dystrophy type 1 triplet repeat sequence induces gross deletions and inversions.
Wojciechowska M, Bacolla A, Larson JE, Wells RD.
J Biol Chem 280(2):941-52. Epub 2004 Oct 15. 2005
32FXN, FRDA, FRAXA, FMR1, FRAXE, ATXN1, SCA1, ATXN2, SCA2, ATXN3, MJD, ATXN7, SCA7, SCA6, CACNA1A, SCA17, TBP, DRPLA, ATN1, AR, SBMA, DM1, DMPK, DM2, CNBP, SCA10, ATXN10, SCA12, PPP2R2B, SCA8, ATXN8OS
Diseases of unstable repeat expansion: mechanisms and common principles.
Gatchel JR, Zoghbi HY.
Nat Rev Genet 6(10):743-55. Review. 2005
33DMPK, PLN
Myotonic dystrophy protein kinase phosphorylates phospholamban and regulates calcium uptake in cardiomyocyte sarcoplasmic reticulum.
Kaliman P, Catalucci D, Lam JT, Kondo R, Gutierrez JC, Reddy S, Palacin M, Zorzano A, Chien KR, Ruiz-Lozano P.
J Biol Chem 280(9):8016-21. Epub 2004 Dec 13. 2005
34DM1, DMPK
Familial clustering of muscular and cardiac involvement in myotonic dystrophy type 1.
Groh WJ, Lowe MR, Simmons Z, Bhakta D, Pascuzzi RM.
Muscle Nerve 31(6):719-24. 2005
35DM2, CNBP, DM1, DMPK
Similar brain tau pathology in DM2/PROMM and DM1/Steinert disease.
Maurage CA, Udd B, Ruchoux MM, Vermersch P, Kalimo H, Krahe R, Delacourte A, Sergeant N.
Neurology 65(10):1636-8. 2005
36DMPK
Divergent mitochondrial and endoplasmic reticulum association of DMPK splice isoforms depends on unique sequence arrangements in tail anchors.
van Herpen RE, Oude Ophuis RJ, Wijers M, Bennink MB, van de Loo FA, Fransen J, Wieringa B, Wansink DG.
Mol Cell Biol. 25(4):1402-14. 2005
37DMPK
Inhibition of myogenesis in transgenic mice expressing the human DMPK 3'-UTR.
Storbeck CJ, Drmanic S, Daniel K, Waring JD, Jirik FR, Parry DJ, Ahmed N, Sabourin LA, Ikeda JE, Korneluk RG.
Hum Mol Genet. 13(6):589-600. 2004
38DMPK
Transgenic overexpression of human DMPK accumulates into hypertrophic cardiomyopathy, myotonic myopathy and hypotension traits of myotonic dystrophy.
O'Cochlain DF, Perez-Terzic C, Reyes S, Kane GC, Behfar A, Hodgson DM, Strommen JA, Liu XK, van den Broek W, Wansink DG, Wieringa B, Terzic A.
Hum Mol Genet. 13(20):2505-18 2004
39ACTN4, AURKC, CKM, CYP2B6, CYTH2, DMPK, FOSB, IRF3, ITPKC, MIA, SIX5, VASP
The telomeric region of BTA18 containing a potential QTL region for health in cattle exhibits high similarity to the HSA19q region in humans small star, filled
Brunner RM, Sanftleben H, Goldammer T, Kuhn C, Weikard R, Kata SR, Womack JE, Schwerin M.
Genomics 81(3):270-8. 2003
40DM1, DMPK
Spontaneous chromosome loss and colcemid resistance in lymphocytes from patients with myotonic dystrophy type 1.
Casella M, Lucarelli M, Simili M, Beffy P, Del Carratore R, Minichilli F, Chisari C, Simi S.
Cytogenet Genome Res 100(1-4):224-9. 2003
41DMPK
Identification of intracellular signaling pathways that induce myotonic dystrophy protein kinase expression during myogenesis.
Carrasco M, Canicio J, Palacin M, Zorzano A, Kaliman P.
Endocrinology 143(8):3017-25. 2002
42DMPK
Decreased levels of myotonic dystrophy protein kinase (DMPK) and delayed differentiation in human myotonic dystrophy myoblasts
Furling D, Lemieux D, Taneja K, Puymirat J.
Neuromuscul Disord 11(8):728-35. 2001
43DMPK
Mice transgenic for the human myotonic dystrophy region with expanded CTG repeats display muscular and brain abnormalities.
Seznec H, Agbulut O, Sergeant N, Savouret C, Ghestem A, Tabti N, Willer JC, Ourth L, Duros C, Brisson E, Fouquet C, Butler-Browne G, Delacourte A, Junien C, Gourdon G.
Hum Mol Genet. 10(23):2717-26. 2001
44DMPK
Constitutive and regulated modes of splicing produce six major myotonic dystrophy protein kinase (DMPK) isoforms with distinct properties.
Groenen PJ, Wansink DG, Coerwinkel M, van den Broek W, Jansen G, Wieringa B.
Hum Mol Genet 9(4):605-616. 2000
45DM1, DMPK, MBNL1
Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy.
Miller JW, Urbinati CR, Teng-Umnuay P, Stenberg MG, Byrne BJ, Thornton CA, Swanson MS.
EMBO J 19(17):4439-4448. 2000
46DMPK
Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat.
Mankodi A, Logigian E, Callahan L, McClain C, White R, Henderson D, Krym M, Thornton CA.
Science 289(5485):1769-73. 2000
47CDC42BPA, CDC42BPB, DMPK
Characterization of a monoclonal antibody panel shows that the myotonic dystrophy protein kinase, DMPK, is expressed almost exclusively in muscle and heart.
Lam LT, Pham YC, Man Nt, Morris GE.
Hum Mol Genet 9(14):2167-73. 2000
48DMPK
Myotonic dystrophy protein kinase domains mediate localization, oligomerization, novel catalytic activity, and autoinhibition.
Bush EW, Helmke SM, Birnbaum RA, Perryman MB.
Biochemistry 39(29):8480-90. 2000
49DMPK
Rac-1 and Raf-1 kinases, components of distinct signaling pathways, activate myotonic dystrophy protein kinase.
Shimizu M, Wang W, Walch ET, Dunne PW, Epstein HF.
FEBS Lett 475(3):273-7. 2000
50DMPK, SIX5
Characterization of the expression of DMPK and SIX5 in the human eye and implications for pathogenesis in myotonic dystrophy.
Winchester CL, Ferrier RK, Sermoni A, Clark BJ, Johnson KJ.
Hum Mol Genet 8 : 481-492. 1999
51DMPK
Decreased expression of myotonic dystrophy protein kinase and disorganization of sarcoplasmic reticulum in skeletal muscle of myotonic dystrophy.
Ueda H, et al.
J Neurol Sci 162(1):38-50. 1999
52DM1, DMPK, SIX5
Myotonic dystrophy: tissue-specific effect of somatic CTG expansions on allele-specific DMAHP/SIX5 expression.
Korade-Mirnics Z, et al.
Hum Mol Genet 8(6):1017-23. 1999
53DM1, DMPK
Cis and trans effects of the myotonic dystrophy (DM) mutation in a cell culture model.
Amack JD, Paguio AP, Mahadevan MS.
Hum Mol Genet 8(11):1975-84. 1999
54DM1, DMPK
Structural analysis of slipped-strand DNA (S-DNA) formed in (CTG)n (CAG)n repeats from the myotonic dystrophy locus.
Pearson CE, Wang YH, Griffith JD, Sinden RR.
Nucleic Acids Res 26(3):816-23. 1998
55DMPK
Localization of myotonic dystrophy protein kinase in human and rabbit tissues using a new panel of monoclonal antibodies.
Pham YC, Man N, Lam LT, Morris GE.
Hum Mol Genet 7 : 1957-1965. 1998
56DMPK
Fluorescence in situ hybridization analysis of the replication properties of the myotonic dystrophy protein kinase (DMPK) gene region.
Rajcan-Separovic E, Bence-Bruckler I, Wells P, Wang H.
Cytogenet Cell Genet 82 : 247-250. 1998
57DM1, DMPK, DMWD, SIX5
Myotonic dystrophy: molecular windows on a complex etiology.
Korade-Mirnics Z, Babitzke P, Hoffman E.
Nucleic Acids Res 26(6):1363-8. Review 1998
58DMPK, HSPB2
MKBP, a novel member of the small heat shock protein family, binds and activates the myotonic dystrophy protein kinase.
Suzuki A, Sugiyama Y, Hayashi Y, Nyu-i N, Yoshida M, Nonaka I, Ishiura S, Arahata K, Ohno S.
J Cell Biol 140(5):1113-24 1998
59DM1, DMPK
Expansion of a CUG trinucleotide repeat in the 3' untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts.
Davis BM, McCurrach ME, Taneja KL, Singer RH, Housman DE.
Proc Natl Acad Sci U S A 94(14):7388-93. 1997
60DM1, DMPK
Transcriptional abnormality in myotonic dystrophy affects DMPK but not neighboring genes.
Hamshere MG, Newman EE, Alwazzan M, Athwal BS, Brook JD.
Proc Natl Acad Sci U S A 94(14):7394-9. 1997
61DMPK
Myotonic dystrophy protein kinase is involved in the modulation of the Ca2+ homeostasis in skeletal muscle cells.
Benders AA, Groenen PJ, Oerlemans FT, Veerkamp JH, Wieringa B.
J Clin Invest 100(6):1440-7. 1997
62DM1, DMPK
Association of CTG repeats and the 1-kb Alu insertion/deletion polymorphism at the myotonin protein kinase gene in the Japanese population suggests a common Eurasian origin of the myotonic dystrophy mutation.
Yamagata H, Miki T, Nakagawa M, Johnson K, Deka R, Ogihara T.
Hum Genet 97 : 145-147. 1996
63DM1, DMPK
Overexpression of myotonic dystrophy kinase in BC3H1 cells induces the skeletal muscle phenotype.
Bush EW, Taft CS, Meixell GE, Perryman MB.
J Biol Chem 271 : 548-552. 1996
64DM1, DMPK
Instability of the expanded (CTG)n repeats in the myotonin protein kinase gene in cultured lymphoblastoid cell lines from patients with myotonic dystrophy.
Ashizawa T, Monckton DG, Vaishnav S, Patel BJ, Voskova A, Caskey CT.
Genomics 36 : 47-53. 1996
65DM1, SIX5, DMPK
A novel homeo domain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat.
Boucher CA, King SK, Carey N, Krahe R, Winchester CL, Rahman S, Creavin T, Meghji P, Bailey ME, Chartier FL, et al.
Hum Mol Genet 4(10):1919-25. 1995
66DM1, DMPK
De novo myotonic dystrophy mutation in a Nigerian kindred.
Krahe R, Eckhart M, Ogunniyi AO, Osuntokun BO, Siciliano MJ, Ashizawa T.
Am J Hum Genet 56 : 1067-1074. 1995
67DM1, DMPK
Characterization of myotonic dystrophy kinase (DMK) protein in human and rodent muscle and central nervous tissue.
Whiting EJ, Waring JD, Tamai K, Somerville MJ, Hincke M, Staines WA, Ikeda JE, Korneluk RG.
Hum Mol Genet 4 : 1063-1072. 1995
68DM1, DMPK
Heterogeneity of DM kinase repeat expansion in different fetal tissues and further expansion during cell proliferation in vitro : evidence for a causal involvement of methyl-directed DNA mismatch repair in triplet repeat stability.
Wohrle D, Kennerknecht I, Wolf M, Enders H, Schwemmle S, Steinbach P.
Hum Mol Genet 4 : 1147-1153. 1995
69DM1, DMPK
Effect of myotonic dystrophy trinucleotide repeat expansion on DMPK transcription and processing.
Krahe R, Ashizawa T, Abbruzzese C, Roeder E, Carango P, Giacanelli M, Funanage VL, Siciliano MJ.
Genomics 28 : 1-14. 1995
70DM1, DMPK
Full-length myotonin protein kinase (72 kDa) displays serine kinase activity.
Timchenko L, Nastainczyk W, Schneider T, Patel B, Hofmann F, Caskey CT.
Proc Natl Acad Sci U S A 92 : 5366-5370. 1995
71DM1, DMPK
Detection of a premutation in Japanese myotonic dystrophy.
Yamagata H, Miki T, Sakoda S, Yamanaka N, Davies J, Shelbourne P, Kubota R, Takenaga S, Nakagawa M, Ogihara T, et al.
Hum Mol Genet 3 : 819-820. 1994
72DM1, DMPK
Structure and genomic sequence of the myotonic dystrophy (DM kinase) gene.
Mahadevan MS, Amemiya C, Jansen G, Sabourin L, Baird S, Neville CE, Wormskamp N, Segers B, Batzer M, Lamerdin J, et al.
Hum Mol Genet 2 : 299-304. 1993
73DM1, DMPK
Myotonic dystrophy kinase is a component of neuromuscular junctions.
van der Ven PF, Jansen G, van Kuppevelt TH, Perryman MB, Lupa M, Dunne PW, ter Laak HJ, Jap PH, Veerkamp JH, Epstein HF, et al.
Hum Mol Genet 2 : 1889-1894. 1993
74DM1, DMPK
The DM mutation : diagnostic applications in the Finnish population.
Nokelainen P, Shelbourne P, Shaw D, Brook JD, Harley HG, Johnson K, Somer H, Savontaus ML, Peltonen L.
Clin Genet 43 : 190-195. 1993
75DM1, DMPK
Absence of myotonic dystrophy protein kinase (DMPK) mRNA as a result of a triplet repeat expansion in myotonic dystrophy.
Carango P, Noble JE, Marks HG, Funanage VL.
Genomics 18 : 340-348. 1993
76DM1, DMPK
Molecular basis of myotonic dystrophy : expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.
Brook JD, McCurrach ME, Harley HG, Buckler AJ, Church D, Aburatani H, Hunter K, Stanton VP, Thirion JP, Hudson T, et al.
Cell 68 : 799-808. 1992
77DMPK
Unstable DNA may be responsible for the incomplete penetrance of the myotonic dystrophy phenotype.
Shelbourne P, Winqvist R, Kunert E, Davies J, Leisti J, Thiele H, Bachmann H, Buxton J, Williamson B, Johnson K.
Hum Mol Genet 1 : 467-473. 1992
78DMPK
Characterization of the myotonic dystrophy region predicts multiple protein isoform-encoding mRNAs.
Jansen G, Mahadevan M, Amemiya C, Wormskamp N, Segers B, Hendriks W, O'Hoy K, Baird S, Sabourin L, Lennon G, et al.
Nat Genet 1(4):261-6.PMID: 1302022 1992
79DMPK
Three-point linkage analysis employing C3 and 19cen markers assigns the myotonic dystrophy gene to 19q.
Friedrich U, Brunner H, Smeets D, Lambermon E, Ropers HH.
Hum Genet 75 : 291-293. 1987
80DM1, DMPK
1.
CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy.
Barbé L, Lanni S, López-Castel A, Franck S, Spits C, Keymolen K, Seneca S, Tomé S, Miron I, Letourneau J, Liang M, Choufani S, W arbé L, Lanni S, López-Castel A, Franck S, Spits C, Keymolen K, Seneca S, Tomé S, Miron I, Letourneau J, Liang M, Choufani S, We