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Clin Neurol Neurosurg. 2019 Jan;176:30-33. doi: 10.1016/j.clineuro.2018.11.013. Epub 2018 Nov 19.

Expanding the phenotype of filamin-C-related myofibrillar myopathy.

Author information

1
Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Denmark. Electronic address: josefine.de.stricker.borch@regionh.dk.
2
Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Denmark.

Abstract

We report three patients with a rare filamin C myofibrillar myopathy. They present with atypical symptoms that expand the phenotype of filaminopathy. The new findings are progressive contractures of muscles surrounding the temporomandibular joint, detailed single myofiber histology findings and demonstration of severe affection of paraspinal muscles on MRI.

KEYWORDS:

Axial myopathy; Filamin C-related myopathy; Myofibrillar myopathy; Protein aggregates; Trismus

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