Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 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

Josefine de Stricker Borch  1 , Anne-Sofie Vibæk Eisum  2 , Thomas Krag  2 , John Vissing  2
Affiliations
Case Reports

Expanding the phenotype of filamin-C-related myofibrillar myopathy

Josefine de Stricker Borch et al. Clin Neurol Neurosurg. 2019 Jan.

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.

PubMed Disclaimer

Publication types

Supplementary concepts

LinkOut - more resources