Cardiac and muscle imaging findings in a family with X-linked Emery-Dreifuss muscular dystrophy

Neuromuscular Disorders

Volumn 22, Issue 2, 2012, Pages 152-158

  Carboni, Nicola ^a   Mura, Marco ^a   Mercuri, Eugenio ^b   Marrosu, Giovanni ^a   Manzi, Rosa C ^c   Cocco, Eleonora ^a   Nissardi, Vincenzo ^d   Isola, Franco ^c   Mateddu, Anna ^a   Solla, Elisabeta ^a   Maioli, Maria A ^a   Oppo, Valentina ^a   Piras, Rachele ^a   Marini, Stefano ^a   Lai, Carlo ^c   Politano, Luisa ^e   Marrosu, Maria G ^e  

^a UNIVERSITY OF CAGLIARI   (Italy)

^b CATHOLIC UNIVERSITY   (Italy)

^c Is Mirrionis Hospital   (Italy)

^d University Hospital San Giovanni di Dio   (Italy)

^e SECOND UNIVERSITY OF NAPLES   (Italy)

Author keywords

Emery Dreifuss muscular dystrophy; Intrafamilial variability; STA gene; Sustained ventricular tachycardia

Indexed keywords

EMERIN;

ADOLESCENT; ADULT; ARTICLE; BRADYCARDIA; CLINICAL ARTICLE; DEFIBRILLATOR; DISEASE SEVERITY; ECHOCARDIOGRAPHY; EMERY DREIFUSS MUSCULAR DYSTROPHY; EXON; FAMILY; GASTROCNEMIUS MUSCLE; GENE; GENE MUTATION; HEART DILATATION; HEART VENTRICLE TACHYCARDIA; HETEROZYGOTE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; MUSCLE BIOPSY; PRIORITY JOURNAL; SINUS ARRHYTHMIA; SINUS BRADYCARDIA; SOLEUS MUSCLE; STA GENE; SUPRAVENTRICULAR PREMATURE BEAT; TACHYCARDIA;

ADOLESCENT; ADULT; FEMALE; FOLLOW-UP STUDIES; HEART; HUMANS; LONGITUDINAL STUDIES; MALE; MUSCLE, SKELETAL; MUSCULAR DYSTROPHY, EMERY-DREIFUSS; MUTATION; PEDIGREE; YOUNG ADULT;

EID: 84856327591     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2011.09.001     Document Type: Article

References (30)

1. Bione S., Maestrini E., Rivella S., et al. Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nat Genet 1994, 8(4):323-327.
2. Bengtsson Luiza, Wilson Katherine L. Multiple and surprising new functions for emerin, a nuclear membrane protein. Curr Opin Cell Biol 2004, 16:73-79.
3. Tsukahara T., Tsujino S., Arahata K. CDNA microarray analysis of gene expression in fibroblasts of patients with X-linked Emery-Dreifuss muscular dystrophy. Muscle Nerve 2002, 25:898-901.
4. Manilal S., Nguyen thi Man, Sewry C.A., Morris G.E. The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein. Hum Mol Genet 1996, 5(6):801-808.
5. Lee Kenneth.K., Haraguchi Tokuto, Lee Richard S., Koujin Takako, Hiraoka Yasushi Distinct functional domains in emerin bind lamin A and DNA-bridging protein BAF. J Cell Sci 2001, 114:4567-4573.
6. Wilkinson F.L., Holaska J.M., Zhang Z., et al. Emerin interacts in vitro with the splicing associated factor, YT521-B. Eur J Biochem 2003, 270:2459-2466.
7. Funakoshi Masanadori, Tsuchiya Yuichi, Arahata Kiichi Emerin and cardiomyopathy in Emery-Dreifuss muscular dystrophy. Neuromuscul Disord 1999, 9:108-114.
8. Sakata Kenji, Shimizu Masami, Ino Hidekazu, et al. High incidence of sudden cardiac death with conduction disturbances and atrial cardiomyopathy caused by a nonsense mutation in the STA gene. Circulation 2005, 111:3352-3358.
9. Hermans M.C.E., Pinto Y.M., Merkies I.S.J., De Die-Smulders C.E.M., Crijns H.J.G.M., Faber C.G. Hereditary muscular dystrophies and the heart. Neuromuscul Disord 2010, 20:479-492.
10. Nigro G., Russo V., Ventriglia V.M. Early onset of cardiomyopathy and primary prevention of sudden death in X-linked Emery-Dreifuss muscular dystrophy. Neuromuscul Disord 2010, 20:174-177.
11. Boriani G., Gallina M., Merlini L., et al. Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy: a long-term longitudinal study. Stroke 2003, 34:901-908.
12. Politano L., Nigro V., Nigro G., et al. Development of cardiomyopathy in female carriers of Duchenne and Becker muscular dystrophies. JAMA 1996, 275(17):1335-1338. May 1.
13. Fishbein M.C., Siegel R.J., Thomson C.E., et al. Sudden death of a carrier of X-linked Emery-Dreifuss muscular dystrophy. Ann Intern Med 1993, 119:900-905.
14. Mercuri E., Counsell S., Allsop J., et al. Selective muscle involvement on magnetic resonance imaging in autosomal dominant Emery-Dreifuss muscular dystrophy. Neuropediatrics 2002, 33:10-14.
15. John J. Grading of muscle power: comparison of MRC and analogue scales by physioterapists. Medical research council. Int J Rehabil Res 1984, 7:173-181.
16. Dubowitz V, Sewry C. Histological and histochemical stains and reactions. Muscle Biopsy: A Practical Approach 2007;6:195-245, 21-39.
17. Sambrook J., Fritsch E.F. Molecular cloning. A Laboratory Manual 1989, vol. 6:20-21. Cold Spring Harbor Laboratory, New York, NY.
18. Epstein A.E., DiMarco J.P., Ellenboghen K.A., et al. ACC/AHA/HRS 2008 Guidelines for Device based therapy of cardiac rhythm abnormalities: a report of the American College of Cardiology/American Heart association Task Force on practice guidelines (ACC/AHA/NASPE Committee to update the 2002 Pacemaker Guidelines). Circulation 2008, 117:350-408.
19. Mercuri E., Pichiecchio A., Counsell S., et al. A short protocol for muscle MRI in children with muscular dystrophies. Eur J Paediat Neurol 2002, 6:305-307.
20. Sookho S., MacKinnon I., Chinnery P.F., et al. MRI for the demonstration of subclinical muscle involvement in muscular dystrophy. Clin Radiol 2007, 62:160-165.
21. Ellis J.A., Craxton M., Yates J.R., Kendrick-Jones J. Aberrant intracellular targetting and cell cycle-dependent phosphorylation of emerin contribute to the Emery-Dreifuss muscular dystrophy phenotype. J Cell Sci 1998, 111:781-792.
22. Manilal S., Recan D., Sewry C.A., et al. Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression. Hum Mol Genet 1998, 7:855-864.
23. Klauck S.M., Wilgenbus P., Yates J.R.W., Muller C.R., Poutska A. Identification of novel mutations in three families with Emery-Dreifuss muscular dystrophy. Hum Mol Genet 1995, 4:1853-1857.
24. Bonne G. Diseases associated with myonuclear abnormalities: defects of nuclear membrane related proteins (emerin, Lamins A/C). In: Karpati G, ed. Structural and Molecular Basis of Skeletal Muscle Diseases, 2002; chapt. 3: pp. 48-56.
25. Toniolo D. Emery-Dreifuss muscular dystrophy. In: Emery A.E.H., editor. The Muscular Dystrophies, 2001; chapt. 6: pp. 95-108.
26. Mercuri E., Picchiecchio A., Allsop J., et al. Muscle MRI in inherited neuromuscular disorders: past, present, future. J Magn Reson Imaging 2007, 25(2):433-440.
27. van Berlo J.H., de Voogt W.G., van der Kooi A.J., 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 2005, 83:79-83.
28. Bonne G., Di Barletta M.R., Varnous S., et al. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet 1999, 21(3):285-288.
29. Meune C., Van Berlo J.H., Anselme F., Bonne G., Pinto Y.M., Duboc D. Primary prevention of sudden death in patients with lamin A/C gene mutations. N Engl J Med 2006, 354:209-210.
30. Pasotti M., Klersy C., Pilotto A., et al. Long-term outcome and risk stratification in dilated cardiolaminopathies. J Am Coll Cardiol 2008, 52:1250-1260.