Clinical and molecular aspects of the myotonic dystrophies: A review

Muscle and Nerve

Volumn 32, Issue 1, 2005, Pages 1-18

  Machuca Tzili, Laura ^a   Brook, David ^a   Hilton Jones, David ^b  

^a UNIVERSITY OF NOTTINGHAM   (United Kingdom)

^b RADCLIFFE INFIRMARY   (United Kingdom)

Author keywords

Clinical features; Myotonic dystrophy; Pathogenesis; Repeat expansion

Indexed keywords

MESSENGER RNA; MYOTONIC DYSTROPHY PROTEIN KINASE;

ANTICIPATION; BRAIN; CARDIOPULMONARY INSUFFICIENCY; CLINICAL FEATURE; DISEASE ACTIVITY; DISEASE CLASSIFICATION; DISEASE COURSE; DISEASE SEVERITY; ELECTROMYOGRAM; ENDOCRINE SYSTEM; EYE; GENE; GENE MAPPING; GENE SEQUENCE; HEART CONDUCTION; HUMAN; MORBIDITY; MORTALITY; MYOTONIA; MYOTONIC DYSTROPHY; NONHUMAN; NUCLEOTIDE REPEAT; PATHOGENESIS; PRIORITY JOURNAL; PROXIMAL MYOTONIC DYSTROPHY; PROXIMAL MYOTONIC MYOPATHY; REVIEW; RNA SPLICING; SMOOTH MUSCLE; ZNF9 GENE;

ADULT; ANIMALS; HUMANS; MYOTONIC DYSTROPHY; PROTEIN-SERINE-THREONINE KINASES; RNA-BINDING PROTEINS;

EID: 21444450805     PISSN: 0148639X     EISSN: None     Source Type: Journal    
DOI: 10.1002/mus.20301     Document Type: Review

References (117)

1. New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1). The International Myotonic Dystrophy Consortium (IDMC). Neurology 2000;54:1218-1221.
2. Alwazzan M, Newman E, Hamshere MG, Brook JD. Myotonic dystrophy is associated with a reduced level of RNA from the DMWD allele adjacent to the expanded repeat. Hum Mol Genet 1999;8:1491-1497.
3. Aminoff MJ, Beckley DJ, McIlroy MB. Autonomic function in myotonic dystrophy. Arch Neurol 1985;42:16.
4. Anderson PA, Greig A, Mark TM, Malouf NN, Oakeley AE, Ungerleider RM, et al. Molecular basis of human cardiac troponin T isoforms expressed in the developing, adult, and failing heart. Circ Res 1995;76:681-686.
5. Andreadis A, Brown WM, Kosik KS. Structure and novel exons of the human tau gene. Biochemistry 1992;31:10626-10633.
6. Bachinski LL, Udd B, Meola G, Sansone V, Bassez G, Eymard B, et al. Confirmation of the type 2 myotonic dystrophy (CCTG)n expansion mutation in patients with proximal myotonic myopathy/proximal myotonic dystrophy of different European origins: a single shared haplotype indicates an ancestral founder effect. Am J Hum Genet 2003;73:835-848.
7. Barbosa J, Nuttall FQ, Kennedy W, Goetz F. Plasma insulin in patients with myotonic dystrophy and their relatives. Medicine (Baltimore) 1974;53:307-323.
8. Barnes PR, Hilton-Jones D, Norbury G, Roberts A, Huson SM. Incorrect diagnosis of myotonic dystrophy and its potential consequences revealed by subsequent direct genetic analysis. J Neurol Neurosurg Psychiatry 1994;57:662.
9. Berul CI, Maguire CT, Aronovitz MJ, Greenwood J, Miller C, Gehrmann J, et al. DMPK dosage alterations result in atrioventricular conduction abnormalities in a mouse myotonic dystrophy model. J Clin Invest 1999;103:R1-R7.
10. Boucher CA, King SK, Carey N, Krahe R, Winchester CL, Rahman S, et al. A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat. Hum Mol Genet 1995;4:1919-1925.
11. Brook JD, McCurrach ME, Harley HG, Buckler AJ, Church D, Aburatani H, 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;68:799-808.
12. Brunner HG, Bruggenwirth HT, Nillesen W, Jansen G, Hamel BC, Hoppe RL, et al. Influence of sex of the transmitting parent as well as of parental allele size on the CTG expansion in myotonic dystrophy (DM). Am J Hum Genet 1993;53:1016-1023.
13. Buee L, Bussiere T, Buee-Scherrer V, Delacourte A, Hof PR. Tau protein isoforms, phosphorylation and role in neurodegenerative disorders. Brain Res Brain Res Rev 2000;33:95-130.
14. Buj-Bello A, Furling D, Tronchere H, Laporte J, Lerouge T, Butler-Browne GS, et al. Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells. Hum Mol Genet 2002;11:2297-2307.
15. Bushby K, Muntoni F, Bourke JP. 107th ENMC international workshop: the management of cardiac involvement in muscular dystrophy and myotonic dystrophy. 7th-9th June 2002, Naarden, the Netherlands. Neuromuscul Disord 2003;13:166-172.
16. Buxton J, Shelbourne P, Davies J, Jones C, Van Tongeren T, Aslanidis C, et al. Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature 1992;355:547-548.
17. Charlet BN, Savkur RS, Singh G, Philips AV, Grice EA, Cooper TA. Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing. Mol Cell 2002;10:45-53.
18. Cooper TA, Ordahl CP. A single cardiac troponin T gene generates embryonic and adult isoforms via developmentally regulated alternate splicing. J Biol Chem 1985;260:11140-11148.
19. Davies J, Yamagata H, Shelbourne P, Buxton J, Ogihara T, Nokelainen P, et al. Comparison of the myotonic dystrophy associated CTG repeat in European and Japanese populations. J Med Genet 1992;29:766-769.
20. Davis BM, McCurrach ME, Taneja KL, Singer RH, Housman DE. Expansion of a CUG trinucleotide repeat in the 3′ untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts. Proc Natl Acad Sci U S A 1997;94:7388-7393.
21. Day JW, Ricker K, Jacobsen JF, Rasmussen LJ, Dick KA, Kress W, et al. Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum. Neurology 2003;60:657-664.
22. Delacourte A, Flament S, Dibe EM, Hublau P, Sablonniere B, Hemon B, et al. Pathological proteins Tau 64 and 69 are specifically expressed in the somatodendritic domain of the degenerating cortical neurons during Alzheimer's disease. Demonstration with a panel of antibodies against Tau proteins. Acta Neuropathol (Berl) 1990;80:111-117.
23. Delacourte A, Robitaille Y, Sergeant N, Buee L, Hof PR, Wattez A, et al. Specific pathological Tau protein variants characterize Pick's disease. J Neuropathol Exp Neurol 1996;55:159-168.
24. Dutzler R, Campbell EB, Cadene M, Chait BT, MacKinnon R. X-ray structure of a ClC chloride channel at 3.0 A reveals the molecular basis of anion selectivity. Nature 2002;415:287-294.
25. Ebralidze A, Wang Y, Petkova V, Ebralidse K, Junghans RP. RNA leaching of transcription factors disrupts transcription in myotonic dystrophy. Science 2004;303:383-387.
26. Ellegren H. Microsatellites: simple sequences with complex evolution. Nat Rev Genet 2004;5:435-445.
27. Fardaei M, Rogers MT, Thorpe HM, Larkin K, Hamshere MG, Harper PS, et al. Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells. Hum Mol Genet 2002;11:805-814.
28. Fomenkov A, Huang YP, Topaloglu O, Brechman A, Osada M, Fomenkova T, et al. P63 alpha mutations lead to aberrant splicing of keratinocyte growth factor receptor in the Hay-Wells syndrome. J Biol Chem 2003;278:23906-23914.
29. Forsberg H, Olofsson BO, Eriksson A, Andersson S. Cardiac involvement in congenital myotonic dystrophy. Br Heart J 1990;63:119-121.
30. Frisch R, Singleton KR, Moses PA, Gonzalez IL, Carango P, Marks HG, et al. Effect of triplet repeat expansion on chromatin structure and expression of DMPK and neighboring genes, SIX5 and DMWD, in myotonic dystrophy. Mol Genet Metab 2001;74:281-291.
31. Fu YH, Pizzuti A, Fenwick RG, Jr, King J, Rajnarayan S, Dunne PW, et al. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 1992;255:1256-1258.
32. Fu YH, Friedman DL, Richards S, Pearlman JA, Gibbs RA, Pizzuti A, et al. Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy. Science 1993;260:235-238.
33. Groenen P, Wieringa B. Expanding complexity in myotonic dystrophy. Bioessays 1998;20:901-912.
34. Grunnet M, Jespersen T, Colding-Jorgensen E, Schwartz M, Klaerke DA, Vissing J, et al. Characterization of two new dominant ClC-1 channel mutations associated with myotonia. Muscle Nerve 2003;28:722-732.
35. Hamshere MG, Newman EE, Alwazzan M, Athwal BS, Brook JD. Transcriptional abnormality in myotonic dystrophy affects DMPK but not neighboring genes. Proc Natl Acad Sci U S A 1997;94:7394-7399.
36. Hamshere MG, Harley H, Harper P, Brook JD, Brookfield JF. Myotonic dystrophy: the correlation of (CTG) repeat length in leucocytes with age at onset is significant only for patients with small expansions. J Med Genet 1999;36:59-61.
37. Harley HG, Brook JD, Rundle SA, Crow S, Reardon W, Buckler AJ, et al. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature 1992;355:545-546.
38. Harper PS. Myotonic dystrophy. London: WB Saunders; 2001. 436 p.
39. Harper PS, Van Engelen B, Eymard B, Wilcox DE. Myotonic dystrophy: present management, future therapy. Oxford: Oxford University Press; 2004. 251 p.
40. Hund E, Jansen O, Koch MC, Ricker K, Fogel W, Niedermaier N, et al. Proximal myotonic myopathy with MRI white matter abnormalities of the brain. Neurology 1997;48:33-37.
41. Jansen G, Mahadevan M, Amemiya C, Wormskamp N, Segers B, Hendriks W, et al. Characterization of the myotonic dystrophy region predicts multiple protein isoform-encoding mRNAs. Nat Genet 1992;1:261-266.
42. Jansen G, Groenen PJ, Bachner D, Jap PH, Coerwinkel M, Oerlemans F, et al. Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice. Nat Genet 1996;13:316-324.
43. Kamisago M, Sharma SD, DePalma SR, Solomon S, Sharma P, McDonough B, et al. Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. N Engl J Med 2000;343:1688-1696.
44. Kan Z, Rouchka EC, Gish WR, States DJ. Gene structure prediction and alternative splicing analysis using genomically aligned ESTs. Genome Res 2001;11:889-900.
45. Kanadia RN, Johnstone KA, Mankodi A, Lungu C, Thornton CA, Esson D, et al. A muscleblind knockout model for myotonic dystrophy. Science 2003;302:1978-1980.
46. Khoo B, Akker SA, Chew SL. Putting some spine into alternative splicing. Trends Biotechnol 2003;21:328-330.
47. Kino Y, Mori D, Oma Y, Takeshita Y, Sasagawa N, Ishiura S. Muscleblind protein, MBNL1/EXP, binds specifically to CHHG repeats. Hum Mol Genet 2004;13:495-507.
48. Kiuchi A, Otsuka N, Namba Y, Nakano I, Tomonaga M. Presenile appearance of abundant Alzheimer's neurofibrillary tangles without senile plaques in the brain in myotonic dystrophy. Acta Neuropathol (Berl) 1991;82:1-5.
49. Klesert TR, Otten AD, Bird TD, Tapscott SJ. Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP. Nat Genet 1997;16:402-406.
50. Klesert TR, Cho DH, Clark JI, Maylie J, Adelman J, Snider L, et al. Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. Nat Genet 2000;25:105-109.
51. Kobayashi M, Meek JC, Streib E. The insulin receptor in myotonic dystrophy. J Clin Endocrinol Metab 1977;45:821-824.
52. Krahe R, Ashizawa T, Abbruzzese C, Roeder E, Carango P, Giacanelli M, et al. Effect of myotonic dystrophy trinucleotide repeat expansion on DMPK transcription and processing. Genomics 1995;28:1-14.
53. Krentz AJ, Clark PM, Cox L, Williams AC, Nattrass M. Hyperproinsulinaemia in patients with myotonic dystrophy. Diabetologia 1992;35:1170-1172.
54. Ladd AN, Charlet N, Cooper TA. The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing. Mol Cell Biol 2001;21:1285-1296.
55. Lander ES, Linton LM, Birren B, Nusbaum C, Zody MC, Baldwin J, et al. Initial sequencing and analysis of the human genome. Nature 2001;409:860-921.
56. Liquori CL, Ricker K, Moseley ML, Jacobsen JF, Kress W, Naylor SL, et al. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science 2001;293:864-867.
57. Liquori CL, Ikeda Y, Weatherspoon M, Ricker K, Schoser BG, Dalton JC, et al. Myotonic dystrophy type 2: human founder haplotype and evolutionary conservation of the repeat tract. Am J Hum Genet 2003;73:849-862.
58. MacDonald JR, Hill JD, Tarnopolsky MA. Modafinil reduces excessive somnolence and enhances mood in patients with myotonic dystrophy. Neurology 2002;59:1876-1880.
59. Mahadevan M, Tsilfidis C, Sabourin L, Shutler G, Amemiya C, Jansen G, et al. Myotonic dystrophy mutation: an unstable CTG repeat in the 3′ untranslated region of the gene. Science 1992;255:1253-1255.
60. Mankodi A, Logigian E, Callahan L, McClain C, White R, Henderson D, et al. Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat. Science 2000;289:1769-1773.
61. Mankodi A, Urbinati CR, Yuan QP, Moxley RT, Sansone V, Krym M, et al. Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2. Hum Mol Genet 2001;10:2165-2170.
62. Mankodi A, Takahashi MP, Jiang H, Beck CL, Bowers WJ, Moxley RT, et al. Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy. Mol Cell 2002;10:35-44.
63. Mankodi A, Teng-Umnuay P, Krym M, Henderson D, Swanson M, Thornton CA. Ribonuclear inclusions in skeletal muscle in myotonic dystrophy types 1 and 2. Ann Neurol 2003;54:760-768.
64. Martorell L, Martinez JM, Carey N, Johnson K, Baiget M. Comparison of CTG repeat length expansion and clinical progression of myotonic dystrophy over a five year period. J Med Genet 1995;32:593-596.
65. Martorell L, Monckton DG, Gamez J, Johnson KJ, Gich I, de Munain AL, et al. Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy patients. Hum Mol Genet 1998;7:307-312.
66. Meola G, Sansone V, Radice S, Skradski S, Ptacek L. A family with an unusual myotonic and myopathic phenotype and no CTG expansion (proximal myotonic myopathy syndrome): a challenge for future molecular studies. Neuromuscul Disord 1996;6:143-150.
67. Mesnard L, Logeart D, Taviaux S, Diriong S, Mercadier JJ, Samson F. Human cardiac troponin T: cloning and expression of new isoforms in the normal and failing heart. Circ Res 1995;76:687-692.
68. Michalowski S, Miller JW, Urbinati CR, Paliouras M, Swanson MS, Griffith J. Visualization of double-stranded RNAs from the myotonic dystrophy protein kinase gene and interactions with CUG-binding protein. Nucleic Acids Res 1999;27:3534-3542.
69. Miller JW, Urbinati CR, Teng-Umnuay P, Stenberg MG, Byrne BJ, Thornton CA, et al. Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy. EMBO J 2000;19:4439-4448.
70. Mitake S, Inagaki T, Niimi T, Shirai T, Yamamoto M. [Development of Alzheimer neurofibrillary changes in two autopsy cases of myotonic dystrophy]. Rinsho Shinkeigaku 1989;29:488-492.
71. Modrek B, Resch A, Grasso C, Lee C. Genome-wide detection of alternative splicing in expressed sequences of human genes. Nucleic Acids Res 2001;29:2850-2859.
72. Moller DE, Yokota A, Caro JF, Flier JS. Tissue-specific expression of two alternatively spliced insulin receptor mRNAs in man. Mol Endocrinol 1989;3:1263-1269.
73. Monckton DG, Wong LJ, Ashizawa T, Caskey CT. Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic dystrophy males: small pool PCR analyses. Hum Mol Genet 1995;4:1-8.
74. Mosthaf L, Grako K, Dull TJ, Coussens L, Ullrich A, McClain DA. Functionally distinct insulin receptors generated by tissue-specific alternative splicing. EMBO J 1990;9:2409-2413.
75. Moxley RT III. Proximal myotonic myopathy: mini-review of a recently delineated clinical disorder. Neuromuscul Disord 1996;6:87-93.
76. Otten AD, Tapscott SJ. Triplet repeat expansion in myotonic dystrophy alters the adjacent chromatin structure. Proc Natl Acad Sci U S A 1995;92:5465-5469.
77. Pagani F, Buratti E, Stuani C, Bendix R, Dork T, Baralle FE. A new type of mutation causes a splicing defect in ATM. Nat Genet 2002;30:426-429.
78. Philips AV, Timchenko LT, Cooper TA. Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy. Science 1998;280:737-741.
79. Ranum LP, Rasmussen PF, Benzow KA, Koob MD, Day JW. Genetic mapping of a second myotonic dystrophy locus. Nat Genet 1998;19:196-198.
80. Reddy S, Smith DB, Rich MM, Leferovich JM, Reilly P, Davis BM, et al. Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy. Nat Genet 1996;13:325-335.
81. Ricker K, Koch MC, Lehmann-Horn F, Pongratz D, Otto M, Heine R, et al. Proximal myotonic myopathy: a new dominant disorder with myotonia, muscle weakness, and cataracts. Neurology 1994;44:1448-1452.
82. Ricker K, Koch MC, Lehmann-Horn F, Pongratz D, Speich N, Reiners K, et al. Proximal myotonic myopathy. Clinical features of a multisystem disorder similar to myotonic dystrophy. Arch Neurol 1995;52:25-31.
83. Sabouri LA, Mahadevan MS, Narang M, Lee DS, Surh LC, Korneluk RG. Effect of the myotonic dystrophy (DM) mutation on mRNA levels of the DM gene. Nat Genet 1993;4:233-238.
84. Sarkar PS, Appukuttan B, Han J, Ito Y, Ai C, Tsai W, et al. Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts. Nat Genet 2000;25:110-114.
85. Sasaki R, Ichiyasu H, Ito N, Ikeda T, Takano H, Ikeuchi T, et al. Novel chloride channel gene mutations in two unrelated Japanese families with Becker's autosomal recessive generalized myotonia. Neuromuscul Disord 1999;9:587-592.
86. Sasaki R, Ito N, Shimamura M, Murakami T, Kuzuhara S, Uchino M, et al. A novel CLCN1 mutation: P480T in a Japanese family with Thomsen's myotonia congenita. Muscle Nerve 2001;24:357-363.
87. Savkur RS, Philips AV, Cooper TA. Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy. Nat Genet 2001;29:40-47.
88. Savkur RS, Philips AV, Cooper TA, Dalton JC, Moseley ML, Ranum LP, et al. Insulin receptor splicing alteration in myotonic dystrophy type 2. Am J Hum Genet 2004;74:1309-1313.
89. Schneider C, Ziegler A, Ricker K, Grimm T, Kress W, Reimers CD, et al. Proximal myotonic myopathy: evidence for anticipation in families with linkage to chromosome 3q. Neurology 2000;55:383-388.
90. Schoser BG, Schneider-Gold C, Kress W, Goebel HH, Reilich P, Koch MC, et al. Muscle pathology in 57 patients with myotonic dystrophy type 2. Muscle Nerve 2004;29:275-281.
91. Seidman JG, Seidman C. The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms. Cell 2001;104:557-567.
92. Sergeant N, Bussiere T, Vermersch P, Lejeune JP, Delacourte A. Isoelectric point differentiates PHF-tau from biopsy-derived human brain tau proteins. Neuroreport 1995;6:2217-2220.
93. Sergeant N, Sablonniere B, Schraen-Maschke S, Ghestem A, Maurage CA, Wattez A, et al. Dysregulation of human brain microtubule-associated tau mRNA maturation in myotonic dystrophy type 1. Hum Mol Genet 2001;10:2143-2155.
94. Seznec H, Lia-Baldini AS, Duros C, Fouquet C, Lacroix C, Hofmann-Radvanyi H, et al. Transgenic mice carrying large human genomic sequences with expanded CTG repeat mimic closely the DM CTG repeat intergenerational and somatic instability. Hum Mol Genet 2000;9:1185-1194.
95. Seznec H, Agbulut O, Sergeant N, Savouret C, Ghestem A, Tabti N, et al. Mice transgenic for the human myotonic dystrophy region with expanded CTG repeats display muscular and brain abnormalities. Hum Mol Genet 2001;10:2717-2726.
96. Stasia MJ, Bordigoni P, Martel C, Morel F. A novel and unusual case of chronic granulomatous disease in a child with a homozygous 36-bp deletion in the CYBA gene (A22(0)) leading to the activation of a cryptic splice site in intron 4. Hum Genet 2002;110:444-450.
97. Steinmeyer K, Lorenz C, Pusch M, Koch MC, Jentsch TJ. Multimeric structure of ClC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen). EMBO J 1994;13:737-743.
98. Strachan T, Read AP. Human molecular genetics 3. London: Garland Science; 2003. 674 p.
99. Takahashi N, Sasagawa N, Suzuki K, Ishiura S. The CUG-binding protein binds specifically to UG dinucleotide repeats in a yeast three-hybrid system. Biochem Biophys Res Commun 2000;277:518-523.
100. Talbot K, Stradling J, Crosby J, Hilton-Jones D. Reduction in excess daytime sleepiness by modafinil in patients with myotonic dystrophy. Neuromuscul Disord 2003;13:357-364.
101. Taneja KL, McCurrach M, Schalling M, Housman D, Singer RH. Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues. J Cell Biol 1995;128:995-1002.
102. Tapscott SJ. Deconstructing myotonic dystrophy. Science 2000;289:1701-1702.
103. Thierfelder L, Watkins H, MacRae C, Lamas R, McKenna W, Vosberg HP, et al. Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. Cell 1994;77:701-712.
104. Thornton CA, Griggs RC, Moxley RT III. Myotonic dystrophy with no trinucleotide repeat expansion. Ann Neurol 1994;35:269-272.
105. Thornton CA, Wymer JP, Simmons Z, McClain C, Moxley RT III. Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene. Nat Genet 1997;16:407-409.
106. Timchenko LT, Miller JW, Timchenko NA, DeVore DR, Datar KV, Lin L, et al. Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy. Nucleic Acids Res 1996;24:4407-4414.
107. Timchenko LT, Timchenko NA, Caskey CT, Roberts R. Novel proteins with binding specificity for DNA CTG repeats and RNA CUG repeats: implications for myotonic dystrophy. Hum Mol Genet 1996;5:115-121.
108. Timchenko NA, Cai ZJ, Welm AL, Reddy S, Ashizawa T, Timchenko LT. RNA CUG repeats sequester CUGBP1 and alter protein levels and activity of CUGBP1. J Biol Chem 2001;276:7820-7826.
109. Udd B, Krahe R, Wallgren-Pettersson C, Falck B, Kalimo H. Proximal myotonic dystrophy-a family with autosomal dominant muscular dystrophy, cataracts, hearing loss and hypogonadism: heterogeneity of proximal myotonic syndromes? Neuromuscul Disord 1997;7:217-228.
110. Udd B, Meola G, Krahe R, Thornton C, Ranum L, Day J, et al. Report of the 115th ENMC workshop: DM2/PROMM and other myotonic dystrophies. 3rd Workshop, 14-16 February 2003, Naarden, The Netherlands. Neuromuscul Disord 2003;13:589-596.
111. Vermersch P, Sergeant N, Ruchoux MM, Hofmann-Radvanyi H, Wattez A, Petit H, et al. Specific tau variants in the brains of patients with myotonic dystrophy. Neurology 1996;47:711-717.
112. Vihola A, Bassez G, Meola G, Zhang S, Haapasalo H, Paetau A, et al. Histopathological differences of myotonic dystrophy type 1 (DM1) and PROMM/DM2. Neurology 2003;60:1854-1857.
113. von zur Muhlen F, Klass C, Kreuzer H, Mall G, Giese A, Reimers CD. Cardiac involvement in proximal myotonic myopathy. Heart 1998;79:619-621.
114. Wang J, Pegoraro E, Menegazzo E, Gennarelli M, Hoop RC, Angelini C, et al. Myotonic dystrophy: evidence for a possible dominant-negative RNA mutation. Hum Mol Genet 1995;4:599-606.
115. Wang YH, Amirhaeri S, Kang S, Wells RD, Griffith JD. Preferential nucleosome assembly at DNA triplet repeats from the myotonic dystrophy gene. Science 1994;265:669-671.
116. Wang YH, Griffith J. Expanded CTG triplet blocks from the myotonic dystrophy gene create the strongest known natural nucleosome positioning elements. Genomics 1995;25:570-573.
117. Yoshimura N, Otake M, Igarashi K, Matsunaga M, Takebe K, Kudo H. Topography of Alzheimer's neurofibrillary change distribution in myotonic dystrophy. Clin Neuropathol 1990;9:234-239.