Patients with familial partial lipodystrophy of the Dunnigan type due to a LMNA R482W mutation show muscular and cardiac abnormalities.

Vantyghem, M C; Pigny, P; Maurage, C A; Rouaix-Emery, N; Stojkovic, T; Cuisset, J M; Millaire, A; Lascols, O; Vermersch, P; Wemeau, J L; Capeau, J; Vigouroux, C

Vantyghem, M C; Pigny, P; Maurage, C A; Rouaix-Emery, N; Stojkovic, T; Cuisset, J M; Millaire, A; Lascols, O; Vermersch, P; Wemeau, J L; Capeau, J; Vigouroux, C.

Affiliation

Vantyghem MC; Department of Endocrinology and Metabolism, Lille University Hospital, 6 rue du Prof. Laguesse, 59037 Lille Cedex, France. mc-vantyghem@chru-lille.fr.

J Clin Endocrinol Metab ; 89(11): 5337-46, 2004 Nov.

Article in En | MEDLINE | ID: mdl-15531479

Subject(s)

Cardiomegaly/etiology; Diabetes Mellitus, Lipoatrophic/genetics; Lamin Type A/genetics; Muscles/pathology; Mutation; Adolescent; Adult; Arteriosclerosis/etiology; Calpain/genetics; Child; Diabetes Mellitus, Lipoatrophic/complications; Diabetes Mellitus, Lipoatrophic/pathology; Female; Humans; Leptin/blood; Male; Middle Aged; Muscular Dystrophies, Limb-Girdle/etiology; Triglycerides/blood

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Collection: 01-internacional Database: MEDLINE Main subject: Cardiomegaly / Lamin Type A / Diabetes Mellitus, Lipoatrophic / Muscles / Mutation Type of study: Etiology_studies Limits: Adolescent / Adult / Child / Female / Humans / Male / Middle aged Language: En Journal: J Clin Endocrinol Metab Year: 2004 Document type: Article Affiliation country: France

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