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Article

BAG3-Related Myofibrillar Myopathy Presenting as Hypercapnia: A Case Report and Literature Review.

Chinese medical sciences journal = Chung-kuo i hsueh k'o hsueh tsa chih - 31 Dec 2021

Xu Yan, Liu Shi-Xuan, Xu Wen-Bing, Luo Jin-Mei, Niu Jing-Wen, Liu Zhi, Gao Jin-Ming, Wang Jing-Lan, Dai Yi, Wang Meng-Zhao

Abstract excerpt

Objective BAG3-related myopathy is a rare condition so far reported in twenty patients worldwide. The purpose of this study was to draw attention to this rare disease and to the fact that BAG3-related myopathy should be considered as a rare differential diagnosis of hypercapnia. Methods We report a sporadic case of a 14-year-old Chinese girl with a de novo p.Pro209Leu mutation in BAG3 and reviewed the literatures...

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PMID: 34986963
DOI: 10.24920/003883

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