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

van den Bogaart Fleur J. A.; Claeys Kristl G.; Kley Rudolf A.; Kusters Benno; Schrading Simone; Kamsteeg Erik J.; Voeunans Nicol C.

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

机译：扩大菲素-C肌病的光谱：由于FLNC的肌动蛋白结合结构域的P.A193T突变，主要是近似肌病

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We report three patients with a predominantly proximal myopathy due to p.A193T mutation in the actin-binding domain of FLNC, which has so far only been associated with a distal myopathy. They presented with a late onset myopathy characterized by predominant limb-girdle and proximal weakness. We describe the clinical, electrophysiological, pathological, muscle imaging and genetic features. One of our patients did not have typical histological features for a myofibrillar myopathy in muscle biopsy. This observation is important for the recognition of the full clinical spectrum of filamin-C-related myopathies. Muscle imaging has an important role in distinguishing the different filamin-C myopathy types.

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来源
《Neuromuscular disorders: NMD》 |2017年第1期|共5页
作者
van den Bogaart Fleur J. A.; Claeys Kristl G.; Kley Rudolf A.; Kusters Benno; Schrading Simone; Kamsteeg Erik J.; Voeunans Nicol C.;
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作者单位

Radboud Univ Nijmegen Med Ctr Dept Neurol Nijmegen Netherlands;

Rhein Westfal TH Aachen Dept Neurol Aachen Germany;

Ruhr Univ Bochum Heimer Inst Muscle Res Dept Neurol Bochum Germany;

Radboud Univ Nijmegen Med Ctr Dept Pathol Nijmegen Netherlands;

Rhein Westfal TH Aachen Dept Radiol Aachen Germany;

Radboud Univ Nijmegen Med Ctr Dept Human Genet Nijmegen Netherlands;

Radboud Univ Nijmegen Med Ctr Dept Neurol Nijmegen Netherlands;

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原文格式 PDF
正文语种 eng
中图分类神经病学;
关键词
Myopathy; Filamin-C; FLNC mutation;

机译：肌病;Safon-C;FLNC突变;

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机译：Z-Disc-Composency，acciend，含PDZ基序的蛋白质（ZASP）突变在肌动蛋白结合结构域中导致肌原纤维肌病中的骨骼肌肌动蛋白长丝中断
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机译：纤维蛋白C的N末端肌动蛋白结合结构域中的突变引起远端肌病。
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机译：法国人群中的新型致病变体扩大了GNE肌病的突变谱
11. Widening the spectrum of filamin-C myopathy: Predominantly proximal myopathy due to the p.A193T mutation in the actin-binding domain of FLNC [O] . Van den Bogaart F, Claeys Kristl, Kley R, 2017

机译：扩大纤维蛋白C肌病的范围：主要由于FLNC肌动蛋白结合域中的p.A193T突变导致近端肌病

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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