Expanding the phenotype of filamin-C-related myofibrillar myopathy

Josefine de Stricker Borch; Anne-Sofie Vibæk Eisum; Thomas Krag; John Vissing

doi:10.1016/j.clineuro.2018.11.013

Expanding the phenotype of filamin-C-related myofibrillar myopathy

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

Authors

Josefine de Stricker Borch¹, Anne-Sofie Vibæk Eisum², Thomas Krag², John Vissing²

Affiliations

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.

PMID: 30496909
DOI: 10.1016/j.clineuro.2018.11.013

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.

Publication types

Case Reports

MeSH terms

Adult
Female
Filamins / genetics*
Humans
Male
Middle Aged
Muscle, Skeletal / pathology*
Muscular Diseases / genetics
Muscular Diseases / pathology
Mutation / genetics
Myopathies, Structural, Congenital / diagnosis
Myopathies, Structural, Congenital / genetics*
Pedigree
Phenotype

Substances

FLNC protein, human
Filamins

Supplementary concepts

Myofibrillar Myopathy