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： van den Bogaart, Fleur J. A. ^[1] ; Claeys, Kristl G. ^[2] ; Kley, Rudolf A. ^[3] ; Kusters, Benno ^[4] ; Schrading, Simone ^[5] ; Kamsteeg, Erik J. ^[6] ; Voeunans, Nicol C.

作者单位： Ruhr Univ Bochum, Heimer Inst Muscle Res, Dept Neurol, Bochum, Germany ^[1] Rhein Westfal TH Aachen, Dept Neurol, Aachen, Germany ^[2] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Nijmegen, Netherlands ^[3] Radboud Univ Nijmegen, Med Ctr, Dept Pathol, Nijmegen, Netherlands ^[4] Rhein Westfal TH Aachen, Dept Radiol, Aachen, Germany ^[5] Radboud Univ Nijmegen, Med Ctr, Dept Neurol, Nijmegen, Netherlands ^[6]

关键词 Myopathy Filamin-C FLNC mutation

发布时间 2017-06-09

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Neuromuscular disorders

2017年27卷1期

73-77页

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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

Neuromuscular disorders

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Neuromuscular disorders

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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

Neuromuscular disorders

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Neuromuscular disorders

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