Dilated cardiomyopathy with conduction defects in a patient with partial merosin deficiency due to mutations in the laminin- α 2-chain gene: A chance association or a novel phenotype?

Muscle and Nerve

Volumn 44, Issue 5, 2011, Pages 826-828

  Carboni, Nicola ^a   Marrosu, Giovanni ^a   Porcu, Maurizio ^b   Mateddu, Anna ^a   Solla, Elisabetta ^a   Cocco, Eleonora ^a   Maioli, Maria A ^a   Oppo, Valentina ^a   Piras, Rachele ^a   Marrosu, Maria G ^a  

^a UNIVERSITY OF CAGLIARI   (Italy)

^b BROTZU HOSPITAL   (Italy)

Author keywords

Dilated cardiomyopathy with conduction defects; LAMA2 gene mutations; Partial merosin dficiency

Indexed keywords

LAMININ ALPHA2; MEROSIN;

ADULT; ARTICLE; CASE REPORT; CONGESTIVE CARDIOMYOPATHY; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAM; GENE MUTATION; HEART MUSCLE CONDUCTION DISTURBANCE; HEART VENTRICLE ARRHYTHMIA; HISTOLOGY; HOLTER MONITORING; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; LIMB GIRDLE MUSCULAR DYSTROPHY; LONGITUDINAL STUDY; MALE; PHENOTYPE; PRIORITY JOURNAL;

ADULT; ARRHYTHMIAS, CARDIAC; CARDIOMYOPATHY, DILATED; HEART CONDUCTION SYSTEM; HUMANS; LAMININ; LONGITUDINAL STUDIES; MALE; MUTATION; PHENOTYPE;

EID: 80054874367     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.22228     Document Type: Article

References (8)

1. Tomé FM, Evangelista T, Leclerc A, Sunada Y, Manole E, Estournet B, et al. Congenital muscular dystrophy with merosin deficiency. C R Acad Sci III 1994;317:351-355.
2. Muntoni F, Voit T. The congenital muscular dystrophy in 2004: a century of exciting progress. Neuromuscul Disord 2000;14:635-649.
3. Muntoni F, Mercuri E. The congenital muscular dystrophies. In: Emery A, editor. The muscular dystrophies. Oxford, UK: Oxford University Press; 2001.
4. Tan E, Topaloglu H, Sewry C, Zorlu Y, Naom I, Erdem S, et al. Late onset muscular dystrophy with cerebral white matter changes due to partial merosin deficiency. Neuromuscul Disord 1997;7:85-89.
5. Di Blasi C, Mora M, Pareyson D, Farina L, Sghirlanzoni A, Vignier N, et al. Partial laminin a chain deficiency in a patient with myopathy resembling inclusion body myositis. Ann Neurol 2000;47: 811-816.
6. Spyrou N, Philpot J, Foale R, Camici PG, Muntoni F. Evidence of left ventricular dysfunction in children with merosin-deficient congenital muscular dystrophy. Am Heart J 1998;136:474-476.
7. Wang CH, Bonnemann CG, Rutkowski A, Sejersen T, Bellini J, Battista V, et al. Consensus statement on standard of care for congenital muscular dystrophies. J Child Neurol 2010;25:1559-1581.
8. Gilhuis HJ, ten Donkelaar HJ, Tanke RB, Vingerhoets DM, Zwarts MJ, Verrips A, et al. nonmuscular involvement in merosin-negative congenital muscular dystrophy. Pediatr Neurol 2002;26:20-26.