Widening the spectrum of filamin-C myopathy: Predominantly proximal myopathy due to the p.A193T mutation in the actin-binding domain of FLNC

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• 作者：Fleur J.A. van den Bogaart^a ; Kristl G. Claeys^b ; ^c ; Rudolf A. Kley^d ; Benno Kusters^e ; Simone Schrading^f ; Erik J. Kamsteeg^g ; Nicol C. Voermans^a ; ^{nicol.voermans@radboudumc.nl}
• 关键词：Myopathy ; Filamin-C ; FLNC mutation
• 刊名：Neuromuscular Disorders
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：27
• 期：1
• 页码：73-77
• 全文大小：1863 K
• 卷排序：27

文摘

Mutations in the actin-binding domain of FLNC may present as proximal myopathy. Mutations in FLNC have to be considered even if typical histological features are absent. Muscle imaging can help to distinguish different FLNC-related myopathy types.