LMNA mutations in atypical Werner's syndrome [5] (multiple letters)

Lancet

Volumn 362, Issue 9395, 2003, Pages 1585-1586

  Vigouroux, C ^a   Caux, F ^c   Capeau, J ^a   Christin Maitre, S ^b   Cohen, A ^b   Bonne, Gisele ^d   Levy, Nicolas ^a   Oshima, Junko ^e   Garg, Abhimanyu ^g   Martin, George M ^e   Kennedy, Brian K ^f  

^a INSERM   (France)

^b S Antoine Hosp 184 R F   (France)

^c AVICENNE HOSPITAL   (France)

^d PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^e UNIVERSITY OF WASHINGTON   (United States)

^f UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^g UNIVERSITY OF TEXAS AT DALLAS   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CATARACT; CLINICAL FEATURE; DIABETES MELLITUS; DISEASE ASSOCIATION; DISEASE COURSE; GENE MUTATION; HETEROZYGOSITY; HUMAN; HYPERTRIGLYCERIDEMIA; INSULIN RESISTANCE; LETTER; LIPOATROPHY; LIPODYSTROPHY; MUSCLE HYPERTROPHY; PREMATURITY; PRIORITY JOURNAL; SKIN FIBROSIS; WERNER SYNDROME; ADULT; DIFFERENTIAL DIAGNOSIS; GENETICS; MALE; MUTATION; NOTE; PHENOTYPE; PROGERIA;

LAMIN B; LAMIN B1;

ADULT; DIAGNOSIS, DIFFERENTIAL; HUMANS; LAMIN TYPE B; LIPODYSTROPHY; MALE; MUTATION; WERNER SYNDROME; PHENOTYPE; PROGERIA;

EID: 1342284873     PISSN: 01406736     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0140-6736(03)14760-5     Document Type: Letter

References (4)

1. L Chen L Lee BA Kudlow LMNA mutations in atypical Werner's syndrome Lancet 362 2003 440 445
2. F Caux E Dubosclard O Lascols A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leucomelanodermic papules, liver steatosis and cardiomyopathy J Clin Endocrinol Metab 88 2003 1006 1013
3. JW Ha WH Shim NS Chung Cardiovascular findings of Hutchinson-Gilford syndrome: a Doppler and twodimensional echocardiographic study Yonsei Med J 34 1993 352 355
4. C Vigouroux M Auclair E Dubosclard Nuclear envelope disorganization in fibroblasts from lipodystrophic patients with heterozygous R482Q/W mutations in the lamin A/C gene J Cell Sci 114 2001 4459 4468