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The Capital Region of Denmark - a part of Copenhagen University Hospital
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Expanding the phenotype of filamin-C-related myofibrillar myopathy

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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 - 19 Nov 2018

ID: 55783206