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Rigshospitalet - en del af Københavns Universitetshospital
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Expanding the phenotype of filamin-C-related myofibrillar myopathy

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Vis graf over relationer

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.

OriginalsprogEngelsk
TidsskriftClinical Neurology and Neurosurgery
Vol/bind176
Sider (fra-til)30-33
Antal sider4
ISSN0303-8467
DOI
StatusUdgivet - 19 nov. 2018

ID: 55783206