LMNA-associated myopathies: The Italian experience in a large cohort of patients

Neurology

Volumn 83, Issue 18, 2014, Pages 1634-1644

  Maggi, Lorenzo ^a   D'Amico, Adele ^b   Pini, Antonella ^c   Sivo, Serena ^d   Pane, Marika ^d   Ricci, Giulia ^e   Vercelli, Liliana ^f   D'Ambrosio, Paola ^g   Travaglini, Lorena ^b   Sala, Simone ^h   Brenna, Greta ^a   Kapetis, Dimos ^a   Scarlato, Marina ⁱ   Pegoraro, Elena ^m   Ferrari, Maurizio ^j,k,l   Toscano, Antonio ⁿ   Benedetti, Sara ^l   Bernasconi, Pia ^a   Colleoni, Lara ^a   Lattanzi, Giovanna ^o   Bertini, Enrico ^b   Mercuri, Eugenio ^d   Siciliano, Gabriele ^e   Rodolico, Carmelo ⁿ   Mongini, Tiziana ^f   Politano, Luisa ^g   Previtali, Stefano C ⁱ   Carboni, Nicola ^p   Mantegazza, Renato ^a   Morandi, Lucia ^a   more..

^a DEPARTMENT OF NEUROSURGERY   (Italy)

^b BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^c IRCCS ISTITUTO DELLE SCIENZE NEUROLOGICHE DI BOLOGNA   (Italy)

^d CATHOLIC UNIVERSITY   (Italy)

^e UNIVERSITY OF PISA   (Italy)

^f UNIVERSITY OF TURIN   (Italy)

^g SECOND UNIVERSITY OF NAPLES   (Italy)

^h Electrophysiology Laboratories   (Italy)

ⁱ Institute of Experimental Neurology INSPE   (Italy)

^j SAN RAFFAELE HOSPITAL   (Italy)

^k VITA SALUTE SAN RAFFAELE UNIVERSITY   (Italy)

^l Diagnostica e Ricerca San Raffaele   (Italy)

^m UNIVERSITY OF PADOVA   (Italy)

ⁿ UNIVERSITY OF MESSINA   (Italy)

^o RIZZOLI ORTHOPAEDIC INSTITUTE   (Italy)

^p UNIVERSITY OF CAGLIARI   (Italy)

more..

Author keywords

[No Author keywords available]

Indexed keywords

LAMIN A; LMNA PROTEIN, HUMAN;

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BIOINFORMATICS; COHORT ANALYSIS; COMPARATIVE STUDY; DEFIBRILLATOR; DISEASE ASSOCIATION; FEMALE; FOLLOW UP; FRAMESHIFT MUTATION; GENE MUTATION; HEART TRANSPLANTATION; HUMAN; IMPLANTED HEART PACEMAKER; LIMB GIRDLE MUSCULAR DYSTROPHY; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; MISSENSE MUTATION; MOTOR PERFORMANCE; MUSCULAR DYSTROPHY; MYOPATHY; PHENOTYPE; PRIORITY JOURNAL; TERTIARY HEALTH CARE; YOUNG ADULT; ADOLESCENT; AGED; CARDIOMYOPATHIES; CHILD; COMPLICATION; EMERY DREIFUSS MUSCULAR DYSTROPHY; GENETICS; ITALY; MUSCLE DISEASE; PATHOPHYSIOLOGY; PEDIGREE; PRESCHOOL CHILD; VERY ELDERLY;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CARDIOMYOPATHIES; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; FEMALE; HUMANS; ITALY; LAMIN TYPE A; MALE; MIDDLE AGED; MUSCULAR DISEASES; MUSCULAR DYSTROPHIES; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUSCULAR DYSTROPHY, EMERY-DREIFUSS; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; YOUNG ADULT;

EID: 84922393385     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000000934     Document Type: Article

References (33)

1. Bonne G, Capeau J, De Visser M, et al. 82nd ENMC International Workshop, 5th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 1st Workshop of the MYO-CLUSTER Project EUROMEN (European Muscle Envelope Nucleopathies), 15-16 September 2000, Naarden, The Netherlands. Neuromuscul Disord 2002;12:187-194.
2. Bertrand AT, Chikhaoui K, Ben Yaou R, Bonne G. Clinical and genetic heterogeneity in laminopathies. Biochem Soc Trans 2011;39:1687-1692.
3. Worman HJ. Nuclear lamins and laminopathies. J Pathol 2012;226:316-325.
4. Politano L, Carboni N, Madej-Pilarczyk A, et al. Advances in basic and clinical research in laminopathies. Acta Myol 2013;32:18-22.
5. Benedetti S, Bernasconi P, Bertini E, et al. The empowerment of translational research: lessons from laminopathies. Orphanet J Rare Dis 2012;7:37.
6. Carboni N, Politano L, Floris M, et al. Overlapping syndromes in laminopathies: a meta-analysis of the reported literature. Acta Myol 2013;32:7-17.
7. Mercuri E, Poppe M, Quinlivan R, et al. Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant. Arch Neurol 2004;61:690-694.
8. Rankin J, Auer-Grumbach M, Bagg W, et al. Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C. Am J Med Genet A 2008;146A:1530-1542.
9. Brodsky GL, Muntoni F, Miocic S, Sinagra G, Sewry C, Mestroni L. Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement. Circulation 2000;101:473-476.
10. Charniot JC, Pascal C, Bouchier C, et al. Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype. Hum Mutat 2003;21: 473-481.
11. Sébillon P, Bouchier C, Bidot LD, et al. Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations. J Med Genet 2003;40:560-567.
12. Ben Yaou R, Bécane HM, Demay L, et al. Autosomal dominant limb-girdle muscular dystrophy associated with conduction defects (LGMD1B): a description of 8 new families with the LMNA gene mutations. Rev Neurol 2005;161:42-54.
13. Carboni N, Mura M, Marrosu G, et al. Muscle MRI findings in patients with an apparently exclusive cardiac phenotype due to a novel LMNA gene mutation. Neuromuscul Disord 2008;18:291-298.
14. Antoniades L, Eftychiou C, Kyriakides T, Christodoulou K, Katritsis DG. Malignant mutation in the lamin A/C gene causing progressive conduction system disease and early sudden death in a family with mild form of limb-girdle muscular dystrophy. J Interv Card Electrophysiol 2007;19:1-7.
15. van der Kooi AJ, Ledderhof TM, de Voogt WG, et al. A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement. Ann Neurol 1996; 39:636-642.
16. Bonne G, Mercuri E, Muchir A, et al. Clinical and molecular genetic spectrum of autosomal dominant Emery- Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. Ann Neurol 2000;48:170-180.
17. Quijano-Roy S, Mbieleu B, Bönnemann CG, et al. De novo LMNA mutations cause a new form of congenital muscular dystrophy. Ann Neurol 2008;64:177-186.
18. Menezes MP, Waddell LB, Evesson FJ, et al. Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophy. Neurology 2012;78:1258-1263.
19. Benedetti S, Menditto I, Degano M, et al. Phenotypic clustering of lamin A/C mutations in neuromuscular patients. Neurology 2007;69:1285-1292.
20. Emery AE. The muscular dystrophies. Lancet 2002;359: 687-695.
21. Wehnert M, Muntoni F. 60th ENMC International Workshop: non X-linked Emery-Dreifuss Muscular Dystrophy, 5-7 June 1998, Naarden, The Netherlands. Neuromuscul Disord 1999;9:115-121.
22. Mercuri E, Muntoni F. Muscular dystrophies. Lancet 2013;381:845-860.
23. 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.
24. van Rijsingen IA, Arbustini E, Elliott PM, et al. Risk factors for malignant ventricular arrhythmias in lamin A/C mutation carriers a European cohort study. J Am Coll Cardiol 2012;59:493-500.
25. Carboni N, Sardu C, Cocco E, et al. Cardiac involvement in patients with lamin A/C gene mutations: a cohort observation. Muscle Nerve 2012;46:187-192.
26. Cortelli P, Terlizzi R, Capellari S, Benarroch E. Nuclear lamins: functions and clinical implications. Neurology 2012;79:1726-1731.
27. Lattanzi G, Marmiroli S, Facchini A, Maraldi NM. Nuclear damages and oxidative stress: new perspectives for laminopathies. Eur J Histochem 2012;56:e45.
28. Cattin ME, Muchir A, Bonne G. "State-of-the-heart" of cardiac laminopathies. Curr Opin Cardiol 2013;28:297-304.
29. Granger B, Gueneau L, Drouin-Garraud V, et al. Modifier locus of the skeletal muscle involvement in Emery- Dreifuss muscular dystrophy. Hum Genet 2011;129: 149-159.
30. Muntoni F, Bonne G, Goldfarb LG, et al. Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins. Brain 2006;129:1260-1268.
31. Boudreau É, Labib S, Bertrand AT, et al. Lamin A/C mutants disturb sumo1 localization and sumoylation in vitro and in vivo. PLoS One 2012;7:e45918.
32. Arimura T, Onoue K, Takahashi-Tanaka Y, Nuclear accumulation of androgen receptor in gender difference of dilated cardiomyopathy due to lamin A/C mutations. Cardiovasc Res 2013;99:382-394.
33. Roncarati R, Viviani Anselmi C, Krawitz P, et al. Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy. Eur J Hum Genet 2013;21:1105-1111.