Expanding the phenotype of filamin-C-related myofibrillar myopathy

Research output: Contribution to journalJournal articleResearchpeer-review

  • Josefine de Stricker Borch
  • Anne Sofie Vibæk Eisum
  • Thomas Krag
  • Vissing, John

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.

Original languageEnglish
JournalClinical Neurology and Neurosurgery
Volume176
Pages (from-to)30-33
Number of pages4
ISSN0303-8467
DOIs
Publication statusPublished - 2019

    Research areas

  • Axial myopathy, Filamin C-related myopathy, Myofibrillar myopathy, Protein aggregates, Trismus

ID: 217261369