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Case Reports
. 2017 Jan;27(1):73-77.
doi: 10.1016/j.nmd.2016.09.017. Epub 2016 Sep 27.

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

Fleur J A van den Bogaart  1 , Kristl G Claeys  2 , Rudolf A Kley  3 , Benno Kusters  4 , Simone Schrading  5 , Erik J Kamsteeg  6 , Nicol C Voermans  7
Affiliations
Case Reports

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

Fleur J A van den Bogaart et al. Neuromuscul Disord. 2017 Jan.

Abstract

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.

Keywords: FLNC mutation; Filamin-C; Myopathy.

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