Widening the spectrum of filamin-C myopathy: Predominantly proximal myopathy due to the p.A193T mutation in the actin-binding domain of FLNC.
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.
Department of Neurology, Radboud University Medical Centre, Nijmegen, The Netherlands.
Fleur J A
FJ
van den Bogaart
Department of Neurology and Institute of Neuropathology, RWTH Aachen University, Aachen, Germany; Department of Neurology, University Hospitals Leuven and University of Leuven (KU Leuven), Leuven, Belgium.
Kristl G
KG
Claeys
Department of Neurology, Heimer Institute for Muscle Research, Ruhr-University Bochum, Bochum, Germany.
Rudolf A
RA
Kley
Department of Pathology, Radboud University Medical Centre, Nijmegen, The Netherlands.
Benno
B
Kusters
Department of Radiology, RWTH Aachen University, Aachen, Germany.
Simone
S
Schrading
Department of Human Genetics, Radboud University Medical Centre, The Netherlands.
Erik J
EJ
Kamsteeg
Department of Neurology, Radboud University Medical Centre, Nijmegen, The Netherlands. Electronic address: nicol.voermans@radboudumc.nl.
Nicol C
NC
Voermans
D000368:Aged; D005260:Female; D064448:Filamins / Q000235:genetics*; D006801:Humans; D008875:Middle Aged; D009135:Muscular Diseases / Q000235:genetics* / Q000503:physiopathology*
C578661:FLNC protein, human; D064448:Filamins
FLNC mutation; Filamin-C; Myopathy