메뉴 건너뛰기




Volumn 27, Issue 4, 2001, Pages 281-290

Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations

Author keywords

Emerin; Emery Dreifuss; Lamins; Muscular dystrophy; Nuclei

Indexed keywords

EMERIN; LAMIN A; LAMIN C; LAMININ; OXIDOREDUCTASE;

EID: 0034864629     PISSN: 03051846     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.0305-1846.2001.00323.x     Document Type: Article
Times cited : (109)

References (21)
  • 2
    • 0033865686 scopus 로고    scopus 로고
    • Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene
    • (2000) Ann Neurol , vol.48 , pp. 170-180
    • Bonne, G.1    Mercuri, E.2    Muchir, A.3
  • 4
    • 0034059075 scopus 로고    scopus 로고
    • Nuclear lamin A/C R482G mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy
    • (2000) Hum Mol Genet , vol.9 , pp. 109-112
    • Cao, H.1    Hegele, R.A.2
  • 6
    • 0033518282 scopus 로고    scopus 로고
    • Missence mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease
    • (1999) N Engl J Med , vol.341 , pp. 1715-1724
    • Fatkin, D.1    MacRae, C.2    Sasaki, T.3
  • 13
    • 0034702027 scopus 로고    scopus 로고
    • Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb-girdle muscular dystrophy with atrioventricular conduction disturbances (Lgmd1b)
    • (2000) Hum Mol Genet , vol.9 , pp. 1453-1459
    • Muchir, A.1    Bonne, G.2    Van der Kooi, A.J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.