A family of emery-dreifuss muscular dystrophy with extreme difference in severity

Pediatric Neurology

Volumn 32, Issue 5, 2005, Pages 358-360

  Higuchi, Yoshihisa ^a   Hongou, Masako ^a   Ozawa, Kyoko ^a   Kokawa, Hideo ^a   Masaki, Motoko ^a  

^a UTANO NATIONAL HOSPITAL   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CARDIOMYOPATHY; CASE REPORT; DISEASE SEVERITY; EMERY DREIFUSS MUSCULAR DYSTROPHY; FAMILIAL DISEASE; HUMAN; MALE; MUSCLE WEAKNESS; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL;

EID: 18144392308     PISSN: 08878994     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2004.12.011     Document Type: Article

References (10)

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9. C.A. Brown, R.W. Lanning, K.Q. McKinney, A.R. Salvino Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy Am J Med Genet 102 2001 359 367
10. G.L. Brodsky, F. Muntoni, S. Miocic, G. Sinagura, C. Sewry, L. Mestroni Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement Circulation 101 2000 473 476