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Postmortem Findings in a Young Man With Congenital Generalized Lipodystrophy, Type 4 Due to CAVIN1 Mutations

CONTEXT: Congenital generalized lipodystrophy, type 4 (CGL4) is a rare autosomal recessive disorder caused by mutations in caveolae-associated protein 1. Patients with CGL4 also have myopathy and cardiomyopathy with a predisposition for sudden death due to ventricular arrhythmias. However, the under...

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Dades bibliogràfiques
Publicat a:J Clin Endocrinol Metab
Autors principals: Patni, Nivedita, Vuitch, Frank, Garg, Abhimanyu
Format: Artigo
Idioma:Inglês
Publicat: Endocrine Society 2018
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6364506/
https://ncbi.nlm.nih.gov/pubmed/30476128
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2018-01331
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