Cardiomyopathy in neuromuscular disorders

Progress in Pediatric Cardiology

Volumn 24, Issue 1, 2007, Pages 35-46

  Dellefave, Lisa M ^a   McNally, Elizabeth M ^a  

^a Section of Cardiology   (United States)

Author keywords

Arrhythmia; Cardiomyopathy; Muscular dystrophy; Myotonic dystrophy

Indexed keywords

DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; DYSTROPHIN; GLYCOPROTEIN; LAMIN A; LAMIN C;

CARDIOMYOPATHY; CONGESTIVE HEART FAILURE; DUCHENNE MUSCULAR DYSTROPHY; FRIEDREICH ATAXIA; HEART ARRHYTHMIA; HEART MUSCLE; HEART MUSCLE CELL; HUMAN; LIMB GIRDLE MUSCULAR DYSTROPHY; MUSCLE FIBER MEMBRANE; MYOTONIC DYSTROPHY; NEUROMUSCULAR DISEASE; PRIORITY JOURNAL; REVIEW; SKELETAL MUSCLE;

EID: 35348869265     PISSN: 10589813     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ppedcard.2007.08.005     Document Type: Review

References (132)

1. Towbin J., Lowe A., Colan S., et al. Incidence, causes, and outcomes of dilated cardiomyopathy in children. Jama 296 15 (2006) 1867-1876
2. Lapidos K., Kakkar R., and McNally E. The dystrophin glycoprotein complex: signaling strength and integrity for the sarcolemma. Circ Res 94 8 (2004) 1023-1031
3. Monaco A., Bertelson C., Liechti-Gallati S., Moser H., and Kunkel L. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics 2 1 (1988) 90-95
4. Den Dunnen J., Grootscholten P., Bakker E., et al. Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications. Am J Hum Genet 45 6 (1989) 835-847
5. Beggs A., Hoffman E., Snyder J., et al. Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies. Am J Hum Genet 49 1 (1991) 54-67
6. Hu X., Ray P., Murphy E., Thompson M., and Worton R. Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotype/genotype correlation. Am J Hum Genet 46 4 (1990) 682-695
7. Hoffman E., Fischbeck K., Brown R., et al. Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy. N Engl J Med 318 21 (1988) 1363-1368
8. Bodor G., Survant L., Voss E., Smith S., Porterfield D., and Apple F. Cardiac troponin T composition in normal and regenerating human skeletal muscle. Clin Chem 43 3 (1997) 476-484
9. Ramaciotti C., Iannaccone S., and Scott W. Myocardial cell damage in Duchenne muscular dystrophy. Pediatr Cardiol 24 5 (2003) 503-506
10. Nigro G., Comi L., Politano L., and Bain R. The incidence and evolution of cardiomyopathy in Duchenne muscular dystrophy. Int J Cardiol 26 3 (1990) 271-277
11. Melacini P., Fanin M., Danieli G., et al. Myocardial involvement is very frequent among patients affected with subclinical Becker's muscular dystrophy. Circulation 94 12 (1996) 3168-3175
12. Kirchmann C., Kececioglu D., Korinthenberg R., and Dittrich S. Echocardiographic and electrocardiographic findings of cardiomyopathy in Duchenne and Becker-Kiener muscular dystrophies. Pediatr Cardiol 26 1 (2005) 66-72
13. Mori K., Edagawa T., Inoue M., et al. Peak negative myocardial velocity gradient and wall-thickening velocity during early diastole are noninvasive parameters of left ventricular diastolic function in patients with Duchenne's progressive muscular dystrophy. J Am Soc Echocardiogr 17 4 (2004) 322-329
14. Jefferies J., Eidem B., Belmont J., et al. Genetic predictors and remodeling of dilated cardiomyopathy in muscular dystrophy. Circulation 112 18 (2005) 2799-2804
15. Bushby K., Muntoni F., and Bourke J. 107th ENMC international workshop: the management of cardiac involvement in muscular dystrophy and myotonic dystrophy. 7th-9th June 2002, Naarden, The Netherlands. Neuromuscul Disord 13 2 (2003) 166-172
16. Duboc D., Meune C., Lerebours G., Devaux J., Vaksmann G., and Becane H. Effect of perindopril on the onset and progression of left ventricular dysfunction in Duchenne muscular dystrophy. J Am Coll Cardiol 45 6 (2005) 855-857
17. Cohn R., van Erp C., Habashi J., et al. Angiotensin II type 1 receptor blockade attenuates TGF-beta-induced failure of muscle regeneration in multiple myopathic states. Nat Med 13 2 (2007) 204-210
18. Urheim S., Edvardsen T., Torp H., Angelsen B., and Smiseth O. Myocardial strain by Doppler echocardiography. Validation of a new method to quantify regional myocardial function. Circulation 102 10 (2000) 1158-1164
19. Weidemann F., Eyskens B., Jamal F., et al. Quantification of regional left and right ventricular radial and longitudinal function in healthy children using ultrasound-based strain rate and strain imaging. J Am Soc Echocardiogr 15 1 (2002) 20-28
20. Ogata H., Nakatani S., Ishikawa Y., et al. Myocardial strain changes in Duchenne muscular dystrophy without overt cardiomyopathy. Int J Cardiol 115 2 (2007) 190-195
21. English K., and Gibbs J. Cardiac monitoring and treatment for children and adolescents with neuromuscular disorders. Dev Med Child Neurol 48 3 (2006) 231-235
22. Cardiovascular health supervision for individuals affected by Duchenne or Becker muscular dystrophy. Pediatrics 116 6 (2005) 1569-1573
23. Bourke J. Cardiac monitoring and treatment for children and adolescents with neuromuscular disorders. Dev Med Child Neurol 48 3 (2006) 164
24. Baxter P. Treatment of the heart in Duchenne muscular dystrophy. Dev Med Child Neurol 48 3 (2006) 163
25. Chenard A., Becane H., Tertrain F., de Kermadec J., and Weiss Y. Ventricular arrhythmia in Duchenne muscular dystrophy: prevalence, significance and prognosis. Neuromuscul Disord 3 3 (1993) 201-206
26. Finder J., Birnkrant D., Carl J., et al. Respiratory care of the patient with Duchenne muscular dystrophy: ATS consensus statement. Am J Respir Crit Care Med 170 4 (2004) 456-465
27. Eagle M., Baudouin S., Chandler C., Giddings D., Bullock R., and Bushby K. Survival in Duchenne muscular dystrophy: improvements in life expectancy since 1967 and the impact of home nocturnal ventilation. Neuromuscul Disord 12 10 (2002) 926-929
28. Hoogerwaard E., Bakker E., Ippel P., et al. Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in The Netherlands: a cohort study. Lancet 353 9170 (1999) 2116-2119
29. Mirabella M., Servidei S., Manfredi G., et al. Cardiomyopathy may be the only clinical manifestation in female carriers of Duchenne muscular dystrophy. Neurology 43 11 (1993) 2342-2345
30. Politano L., Nigro V., Nigro G., et al. Development of cardiomyopathy in female carriers of Duchenne and Becker muscular dystrophies. Jama 275 17 (1996) 1335-1338
31. Hoogerwaard E., van der Wouw P., Wilde A., et al. Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy. Neuromuscul Disord 9 5 (1999) 347-351
32. Grain L., Cortina-Borja M., Forfar C., Hilton-Jones D., Hopkin J., and Burch M. Cardiac abnormalities and skeletal muscle weakness in carriers of Duchenne and Becker muscular dystrophies and controls. Neuromuscul Disord 11 2 (2001) 186-191
33. Berko B., and Swift M. X-linked dilated cardiomyopathy. N Engl J Med 316 19 (1987) 1186-1191
34. Muntoni F., Cau M., Ganau A., et al. Brief report: deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy. N Engl J Med 329 13 (1993) 921-925
35. Towbin J., Hejtmancik J., Brink P., et al. X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus. Circulation 87 6 (1993) 1854-1865
36. Feng J., Yan J., Buzin C., Towbin J., and Sommer S. Mutations in the dystrophin gene are associated with sporadic dilated cardiomyopathy. Mol Genet Metab 77 1-2 (2002) 119-126
37. Cohen N., and Muntoni F. Multiple pathogenetic mechanisms in X linked dilated cardiomyopathy. Heart 90 8 (2004) 835-841
38. Ferlini A., Galie N., Merlini L., Sewry C., Branzi A., and Muntoni F. A novel Alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy. Am J Hum Genet 63 2 (1998) 436-446
39. Muntoni F., Di Lenarda A., Porcu M., et al. Dystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathy. Heart 78 6 (1997) 608-612
40. Ortiz-Lopez R., Li H., Su J., Goytia V., and Towbin J. Evidence for a dystrophin missense mutation as a cause of X-linked dilated cardiomyopathy. Circulation 95 10 (1997) 2434-2440
41. Bastianutto C., Bestard J., Lahnakoski K., et al. Dystrophin muscle enhancer 1 is implicated in the activation of non-muscle isoforms in the skeletal muscle of patients with X-linked dilated cardiomyopathy. Hum Mol Genet 10 23 (2001) 2627-2635
42. Milasin J., Muntoni F., Severini G., et al. A point mutation in the 5′ splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy. Hum Mol Genet 5 1 (1996) 73-79
43. Feng J., Yan J., Buzin C., Sommer S., and Towbin J. Comprehensive mutation scanning of the dystrophin gene in patients with nonsyndromic X-linked dilated cardiomyopathy. J Am Coll Cardiol 40 6 (2002) 1120-1124
44. Yoshida K., Nakamura A., Yazaki M., Ikeda S., and Takeda S. Insertional mutation by transposable element, L1, in the DMD gene results in X-linked dilated cardiomyopathy. Hum Mol Genet 7 7 (1998) 1129-1132
45. Muntoni F., Melis M., Ganau A., and Dubowitz V. Transcription of the dystrophin gene in normal tissues and in skeletal muscle of a family with X-linked dilated cardiomyopathy. Am J Hum Genet 56 1 (1995) 151-157
46. Ferlini A., Sewry C., Melis M., Mateddu A., and Muntoni F. X-linked dilated cardiomyopathy and the dystrophin gene. Neuromuscul Disord 9 5 (1999) 339-346
47. Miller L., Romitti P., Cunniff C., et al. The muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet): surveillance methodology. Birth Defects Res A Clin Mol Teratol 76 11 (2006) 793-797
48. Alter J., Lou F., Rabinowitz A., et al. Systemic delivery of morpholino oligonucleotide restores dystrophin expression bodywide and improves dystrophic pathology. Nat Med 12 2 (2006) 175-177
49. Barton-Davis E., Cordier L., Shoturma D., Leland S., and Sweeney H. Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice. J Clin Invest 104 4 (1999) 375-381
50. Welch E., Barton E., Zhuo J., et al. PTC124 targets genetic disorders caused by nonsense mutations. Nature 447 7140 (2007) 87-91
51. Bushby K. Diagnostic criteria for the limb-girdle muscular dystrophies: report of the ENMC Consortium on Limb-Girdle Dystrophies. Neuromuscul Disord 5 1 (1995) 71-74
52. Calvo F., Teijeira S., Fernandez J., et al. Evaluation of heart involvement in gamma-sarcoglycanopathy (LGMD2C). A study of ten patients. Neuromuscul Disord 10 8 (2000) 560-566
53. Fanin M., Melacini P., Boito C., Pegoraro E., and Angelini C. LGMD2E patients risk developing dilated cardiomyopathy. Neuromuscul Disord 13 4 (2003) 303-309
54. Barresi R., Di Blasi C., Negri T., et al. Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by beta sarcoglycan mutations. J Med Genet 37 2 (2000) 102-107
55. Nigro V., de Sa Moreira E., Piluso G., et al. Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene. Nat Genet 14 2 (1996) 195-198
56. Brockington M., Blake D., Prandini P., et al. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. Am J Hum Genet 69 6 (2001) 1198-1209
57. Brockington M., Yuva Y., Prandini P., et al. Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. Hum Mol Genet 10 25 (2001) 2851-2859
58. Beedle A., Nienaber P., and Campbell K. Fukutin-related protein associates with the sarcolemmal dystrophin-glycoprotein complex. J Biol Chem 282 23 (2007) 16713-16717
59. Macleod H., Pytel P., Wollmann R., et al. A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex. Neuromuscul Disord 17 4 (2007) 285-289
60. Mercuri E., Brockington M., Straub V., et al. Phenotypic spectrum associated with mutations in the fukutin-related protein gene. Ann Neurol 53 4 (2003) 537-542
61. Boito C., Melacini P., Vianello A., et al. Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I. Arch Neurol 62 12 (2005) 1894-1899
62. Sveen M., Schwartz M., and Vissing J. High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark. Ann Neurol 59 5 (2006) 808-815
63. Muller T., Krasnianski M., Witthaut R., Deschauer M., and Zierz S. Dilated cardiomyopathy may be an early sign of the C826A fukutin-related protein mutation. Neuromuscul Disord 15 5 (2005) 372-376
64. Fukuyama Y., and Ohsawa M. A genetic study of the Fukuyama type congenital muscular dystrophy. Brain Develop 6 4 (1984) 373-390
65. Fukuyama Y., Osawa M., and Suzuki H. Congenital progressive muscular dystrophy of the Fukuyama type- clinical, genetic and pathological considerations. Brain Develop 3 1 (1981) 1-29
66. Osawa M., Arai Y., Ikenaka H., et al. Fukuyama type congenital progressive muscular dystrophy. Acta Paediatr Jpn 33 2 (1991) 261-269
67. Kondo-Iida E., Saito K., Tanaka H., et al. Molecular genetic evidence of clinical heterogeneity in Fukuyama-type congenital muscular dystrophy. Hum Genet 99 4 (1997) 427-432
68. Murakami T., Hayashi Y., Noguchi S., et al. Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness. Ann Neurol 60 5 (2006) 597-602
69. Bonne G., Di Barletta M., Varnous S., et al. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet 21 3 (1999) 285-288
70. Raffaele Di Barletta M., Ricci E., Galluzzi G., et al. Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. Am J Hum Genet 66 4 (2000) 1407-1412
71. Muchir A., Bonne G., van der Kooi A., et al. Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). Hum Mol Genet 9 9 (2000) 1453-1459
72. De Sandre-Giovannoli A., Chaouch M., Kozlov S., et al. Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse. Am J Hum Genet 70 3 (2002) 726-736
73. Novelli G., Muchir A., Sangiuolo F., et al. Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. Am J Hum Genet 71 2 (2002) 426-431
74. Shackleton S., Lloyd D., Jackson S., et al. LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. Nat Genet 24 2 (2000) 153-156
75. Hegele R., Anderson C., and Cao H. Lamin A/C mutation in a woman and her two daughters with Dunnigan-type partial lipodystrophy and insulin resistance. Diabetes Care 23 2 (2000) 258-259
76. Cao H., and Hegele R. Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy. Hum Mol Genet 9 1 (2000) 109-112
77. De Sandre-Giovannoli A., Bernard R., Cau P., et al. Lamin a truncation in Hutchinson-Gilford progeria. Science 300 5628 (2003) 2055
78. Fatkin D., MacRae C., Sasaki T., et al. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. N Engl J Med 341 23 (1999) 1715-1724
79. van Berlo J., de Voogt W., van der Kooi A., et al. Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death. J Mol Med 83 1 (2005) 79-83
80. Perrot A., Sigusch H., Nagele H., et al. Genetic and phenotypic analysis of dilated cardiomyopathy with conduction system disease: demand for strategies in the management of presymptomatic lamin A/C mutant carriers. Eur J Heart Fail 8 5 (2006) 484-493
81. Sebillon P., Bouchier C., Bidot L., et al. Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations. J Med Genet 40 8 (2003) 560-567
82. Pethig K., Genschel J., Peters T., et al. LMNA mutations in cardiac transplant recipients. Cardiology 103 2 (2005) 57-62
83. Jakobs P., Hanson E., Crispell K., et al. Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease. J Card Fail 7 3 (2001) 249-256
84. Emery A. Emery-Dreifuss syndrome. J Med Genet 26 10 (1989) 637-641
85. Wehnert M., and Muntoni F. 60th ENMC International Workshop: non X-linked Emery-Dreifuss Muscular Dystrophy 5-7 June 1998, Naarden, The Netherlands. Neuromuscul Disord 9 2 (1999) 115-121
86. Jackson S., Howlett T., McNally P., O'Rahilly S., and Trembath R. Dunnigan-Kobberling syndrome: an autosomal dominant form of partial lipodystrophy. Qjm 90 1 (1997) 27-36
87. Meune C., Van Berlo J., Anselme F., Bonne G., Pinto Y., and Duboc D. Primary prevention of sudden death in patients with lamin A/C gene mutations. N Engl J Med 354 2 (2006) 209-210
88. Cossee M., Schmitt M., Campuzano V., et al. Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations. Proc Natl Acad Sci U S A 94 14 (1997) 7452-7457
89. Epplen C., Epplen J., Frank G., Miterski B., Santos E., and Schols L. Differential stability of the (GAA)n tract in the Friedreich ataxia (STM7) gene. Hum Genet 99 6 (1997) 834-836
90. Durr A., Cossee M., Agid Y., et al. Clinical and genetic abnormalities in patients with Friedreich's ataxia. N Engl J Med 335 16 (1996) 1169-1175
91. Geoffroy G., Barbeau A., Breton G., et al. Clinical description and roentgenologic evaluation of patients with Friedreich's ataxia. Can J Neurol Sci 3 4 (1976) 279-286
92. Harding A. Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features. Brain 104 3 (1981) 589-620
93. Ristow M. Neurodegenerative disorders associated with diabetes mellitus. J Mol Med 82 8 (2004) 510-529
94. Cote M., Davignon A., Pecko-Drouin K., et al. Cardiological signs and symptoms in Friedreich's ataxia. Can J Neurol Sci 3 4 (1976) 319-321
95. Delatycki M., Paris D., Gardner R., et al. Clinical and genetic study of Friedreich ataxia in an Australian population. Am J Med Genet 87 2 (1999) 168-174
96. Alboliras E., Shub C., Gomez M., et al. Spectrum of cardiac involvement in Friedreich's ataxia: clinical, electrocardiographic and echocardiographic observations. Am J Cardiol 58 6 (1986) 518-524
97. Morvan D., Komajda M., Doan L., et al. Cardiomyopathy in Friedreich's ataxia: a Doppler-echocardiographic study. Eur Heart J 13 10 (1992) 1393-1398
98. Isnard R., Kalotka H., Durr A., et al. Correlation between left ventricular hypertrophy and GAA trinucleotide repeat length in Friedreich's ataxia. Circulation 95 9 (1997) 2247-2249
99. Dutka D., Donnelly J., Palka P., Lange A., Nunez D., and Nihoyannopoulos P. Echocardiographic characterization of cardiomyopathy in Friedreich's ataxia with tissue Doppler echocardiographically derived myocardial velocity gradients. Circulation 102 11 (2000) 1276-1282
100. Harding A., and Hewer R. The heart disease of Friedreich's ataxia: a clinical and electrocardiographic study of 115 patients, with an analysis of serial electrocardiographic changes in 30 cases. Q J Med 52 208 (1983) 489-502
101. Dutka D., Donnelly J., Nihoyannopoulos P., Oakley C., and Nunez D. Marked variation in the cardiomyopathy associated with Friedreich's ataxia. Heart 81 2 (1999) 141-147
102. Filla A., De Michele G., Cavalcanti F., et al. The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia. Am J Hum Genet 59 3 (1996) 554-560
103. Koc F., Akpinar O., Yerdelen D., Demir M., Sarica Y., and Kanadasi M. The evaluation of left ventricular systolic and diastolic functions in patients with Friedreich ataxia. A pulse tissue Doppler study. Int Heart J 46 3 (2005) 443-452
104. Bit-Avragim N., Perrot A., Schols L., et al. The GAA repeat expansion in intron 1 of the frataxin gene is related to the severity of cardiac manifestation in patients with Friedreich's ataxia. J Mol Med 78 11 (2001) 626-632
105. Lodi R., Cooper J., Bradley J., et al. Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia. Proc Natl Acad Sci U S A 96 20 (1999) 11492-11495
106. Lynch D., Farmer J., Balcer L., and Wilson R. Friedreich ataxia: effects of genetic understanding on clinical evaluation and therapy. Arch Neurol 59 5 (2002) 743-747
107. Lodi R., Hart P., Rajagopalan B., et al. Antioxidant treatment improves in vivo cardiac and skeletal muscle bioenergetics in patients with Friedreich's ataxia. Ann Neurol 49 5 (2001) 590-596
108. Bunse M., Bit-Avragim N., Riefflin A., et al. Cardiac energetics correlates to myocardial hypertrophy in Friedreich's ataxia. Ann Neurol 53 1 (2003) 121-123
109. Rustin P., Bonnet D., Rotig A., Munnich A., and Sidi D. Idebenone treatment in Friedreich patients: one-year-long randomized placebo-controlled trial. Neurology 62 3 (2004) 524-525 [author reply 5; discussion 5]
110. Seznec H., Simon D., Monassier L., et al. Idebenone delays the onset of cardiac functional alteration without correction of Fe-S enzymes deficit in a mouse model for Friedreich ataxia. Hum Mol Genet 13 10 (2004) 1017-1024
111. Colleran J., Hawley R., Pinnow E., Kokkinos P., and Fletcher R. Value of the electrocardiogram in determining cardiac events and mortality in myotonic dystrophy. Am J Cardiol 80 11 (1997) 1494-1497
112. Merino J., Carmona J., Fernandez-Lozano I., Peinado R., Basterra N., and Sobrino J. Mechanisms of sustained ventricular tachycardia in myotonic dystrophy: implications for catheter ablation. Circulation 98 6 (1998) 541-546
113. Nguyen H., Wolfe III J., Holmes Jr. D., and Edwards W. Pathology of the cardiac conduction system in myotonic dystrophy: a study of 12 cases. J Am Coll Cardiol 11 3 (1988) 662-671
114. Philips A., Timchenko L., and Cooper T. Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy. Science 280 5364 (1998) 737-741
115. Day J., Ricker K., Jacobsen J., et al. Myotonic dystrophy type 2: molecular, diagnostic and clinical spectrum. Neurology 60 4 (2003) 657-664
116. Schoser B., Ricker K., Schneider-Gold C., et al. Sudden cardiac death in myotonic dystrophy type 2. Neurology 63 12 (2004) 2402-2404
117. Russell S., and Hirsch N. Anaesthesia and myotonia. Br J Anaesth 72 2 (1994) 210-216
118. Aldridge L. Anaesthetic problems in myotonic dystrophy. A case report and review of the Aberdeen experience comprising 48 general anaesthetics in a further 16 patients. Br J Anaesth 57 11 (1985) 1119-1130
119. Klompe L., Lance M., van der Woerd D., Scohy T., and Bogers A. Anaesthesiological and ventilatory precautions during cardiac surgery in Steinert's disease. J Card Surg 22 1 (2007) 74-75
120. Mankodi A., Logigian E., Callahan L., et al. Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat. Science 289 5485 (2000) 1769-1773
121. Wansink D., and Wieringa B. Transgenic mouse models for myotonic dystrophy type 1 (DM1). Cytogenet Genome Res 100 1-4 (2003) 230-242
122. Jiang H., Mankodi A., Swanson M., Moxley R., and Thornton C. Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons. Hum Mol Genet 13 24 (2004) 3079-3088
123. Mankodi A., Lin X., Blaxall B., Swanson M., and Thornton C. Nuclear RNA foci in the heart in myotonic dystrophy. Circ Res 97 11 (2005) 1152-1155
124. Ho T., Bundman D., Armstrong D., and Cooper T. Transgenic mice expressing CUG-BP1 reproduce splicing mis-regulation observed in myotonic dystrophy. Hum Mol Genet 14 11 (2005) 1539-1547
125. Kanadia R., Johnstone K., Mankodi A., et al. A muscleblind knockout model for myotonic dystrophy. Science 302 5652 (2003) 1978-1980
126. Mankodi A., Takahashi M., Jiang H., 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 10 1 (2002) 35-44
127. Savkur R., Philips A., Cooper T., et al. Insulin receptor splicing alteration in myotonic dystrophy type 2. Am J Hum Genet 74 6 (2004) 1309-1313
128. Groh W., Lowe M., Simmons Z., Bhakta D., and Pascuzzi R. Familial clustering of muscular and cardiac involvement in myotonic dystrophy type 1. Muscle Nerve 31 6 (2005) 719-724
129. Bhakta D., Lowe M., and Groh W. Prevalence of structural cardiac abnormalities in patients with myotonic dystrophy type I. Am Heart J 147 2 (2004) 224-227
130. Stollberger C., Winkler-Dworak M., Blazek G., and Finsterer J. Age-dependency of cardiac and neuromuscular findings in left ventricular noncompaction. Int J Cardiol 111 1 (2006) 131-135
131. Dello Russo A., Pelargonio G., Parisi Q., et al. Widespread electroanatomic alterations of right cardiac chambers in patients with myotonic dystrophy type 1. J Cardiovasc Electrophysiol 17 1 (2006) 34-40
132. Lazarus A., Varin J., Babuty D., Anselme F., Coste J., and Duboc D. Long-term follow-up of arrhythmias in patients with myotonic dystrophy treated by pacing: a multicenter diagnostic pacemaker study. J Am Coll Cardiol 40 9 (2002) 1645-1652