Identification of lamin A/C (LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B

Journal of Human Genetics

Volumn 47, Issue 5, 2002, Pages 225-228

  Ki, C S ^a   Hong, J S ^b   Jeong, G Y ^c   Ahn, K J ^d   Choi, K M ^a   Kim, D K ^b   Kim, J W ^a  

^a Sungkyunkwan University School of Medicine   (South Korea)

^b Sungkyunkwan University   (South Korea)

^c Seoul Medical Science Institute   (South Korea)

^d Hanil General Hospital   (South Korea)

Author keywords

Autosomal dominant Emery Dreifuss muscular dystrophy; EDMD2 Limb girdle muscular dystrophy 1B; Lamin A C; LGMD1B; LMNA

Indexed keywords

LAMIN A; LAMIN C;

ADULT; ALPHA HELIX; ALTERNATIVE RNA SPLICING; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CASE REPORT; EMERY DREIFUSS MUSCULAR DYSTROPHY; ETHNIC GROUP; FEMALE; GENE MUTATION; GENETIC IDENTIFICATION; HUMAN; INTERMEDIATE FILAMENT; LIMB GIRDLE MUSCULAR DYSTROPHY; MISSENSE MUTATION; PROTEIN DOMAIN; PROTEIN FAMILY;

ADULT; CYTIDINE TRIPHOSPHATE; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, DOMINANT; GENETIC PREDISPOSITION TO DISEASE; HUMANS; KOREA; LAMIN TYPE A; LAMINS; LAMIVUDINE; MUSCULAR DYSTROPHIES; MUSCULAR DYSTROPHY, EMERY-DREIFUSS; MUTATION; NUCLEAR PROTEINS; PEDIGREE;

EID: 0036272454     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380200029     Document Type: Article

References (14)

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9. A missense mutation in the exon 8 of lamin A/C gene in a Japanese case of autosomal dominant mb-girdle muscular dystrophy and cardiac conduction block
10. Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)
11. Nuclear envelope proteins and associated diseases
12. LMNA, encoding lamin A/C, is mutated in partial lipodystrophy
13. Nuclear lamins: Their structure, assembly, and interactions
14. A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement