Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene

American Journal of Medicine

Volumn 112, Issue 7, 2002, Pages 549-555

  Garg, Abhimanyu ^a,c   Speckman, Rebecca A ^b   Bowcock, Anne M ^b  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^b WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

LAMIN A; LAMIN C;

ADULT; ALPHA HELIX; AMINO TERMINAL SEQUENCE; ARTICLE; ARTIFICIAL HEART PACEMAKER; ATRIOVENTRICULAR BLOCK; CONTROLLED STUDY; DNA SEQUENCE; EXON; FEMALE; GENETIC DISORDER; HEART ATRIUM FIBRILLATION; HEART FAILURE; HUMAN; LIPODYSTROPHY; MALE; MISSENSE MUTATION; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; PREVALENCE; PRIORITY JOURNAL; PROTEIN DOMAIN; SEQUENCE ANALYSIS;

ADULT; AGED; ARRHYTHMIA; CARDIOMYOPATHIES; CHILD; CHROMOSOMES, HUMAN, PAIR 1; FEMALE; HUMANS; LAMIN TYPE A; LAMINS; LIPODYSTROPHY; MALE; MIDDLE AGED; MUSCULAR DYSTROPHIES; MUTATION, MISSENSE; NUCLEAR PROTEINS; PEDIGREE; PREVALENCE; STATISTICS, NONPARAMETRIC; SYNDROME; UNITED STATES;

EID: 0036098280     PISSN: 00029343     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9343(02)01070-7     Document Type: Article

References (30)

1. Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy
2. Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C
3. LMNA, encoding lamin A/C, is mutated in partial lipodystrophy
4. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease
5. Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement
6. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
7. Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy
8. Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)
9. Autosomal dominant Emery-Dreifuss dystrophy due to mutations in rod domain of the lamin A/C gene
10. A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement
11. Emery-Dreifuss syndrome in three generations of females, including identical twins
12. Familial lipoatrophic diabetes with dominant transmission. A new syndrome
13. Metabolic studies in familial partial lipodystrophy of the lower trunk and extremities
14. Familial partial lipodystrophy: Complications of obesity in the non-obese?
15. Familial partial lipodystrophy: Two types of an X linked dominant syndrome, lethal in the hemizygous state
16. Kobberling-Dunnigan syndrome: A rare cause of generalized muscular hypertrophy
17. Dunnigan-Kobberling syndrome: An autosomal dominant form of partial lipodystrophy
18. Pathogenesis of inherited forms of dilated cardiomyopathy
19. Localization of the gene for familial partial lipodystrophy (Dunnigan variety) to chromosome 1q21-22
20. Gender differences in the prevalence of metabolic complications in familial partial lipodystrophy (Dunnigan variety)
21. Cardiomyopathy: Diagnosis and management of dilated cardiomyopathy
22. Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C
23. Phenotypic heterogeneity in patients with familial partial lipodystrophy (Dunnigan variety) related to the site of missense mutations in Lamin A/C gene
24. Genetic variation in LMNA modulates plasma leptin and indices of obesity in aboriginal Canadians
25. Premature atherosclerosis associated with monogenic insulin resistance
26. Lamin A/C gene: Sex-determined expression of mutations in Dunnigan-type familial partial lipodystrophy and absence of coding mutations in congenital and acquired generalized lipoatrophy
27. Lamins in disease: Why do ubiquitously expressed nuclear envelope proteins give rise to tissue-specific disease phenotypes?
28. Disruption of nuclear lamin organization blocks the elongation phase of DNA replication
29. The nuclear envelope, muscular dystrophy and gene expression
30. Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy