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An Uncommon Association of Familial Partial Lipodystrophy, Dilated Cardiomyopathy, and Conduction System Disease

A 46-year-old African American woman presented with severe respiratory distress requiring intubation and was diagnosed with nonischemic cardiomyopathy. She had the typical phenotype of familial partial lipodystrophy 2 (FPLD2). Sequence analysis of LMNA gene showed a heterozygous missense mutation at...

詳細記述

保存先:
書誌詳細
出版年:J Investig Med High Impact Case Rep
主要な著者: Panikkath, Ragesh, Panikkath, Deepa, Sanchez-Iglesias, S., Araujo-Vilar, D, Lado-Abeal, Joaquin
フォーマット: Artigo
言語:Inglês
出版事項: SAGE Publications 2016
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4962337/
https://ncbi.nlm.nih.gov/pubmed/27504462
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/2324709616658495
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