Expanding the phenotype of filamin-C-related myofibrillar myopathy

•We report three patients with a rare filamin C myofibrillar myopathy.•One patient has progressive contractures of the masseter muscle.•Detailed single myofiber histology demonstrate a concurrent protein aggregation.•MRI on paraspinal muscles reveals replacement of all paraspinal muscles by fat. We...

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Bibliographic Details
Published in:Clinical neurology and neurosurgery 2019-01, Vol.176, p.30-33
Main Authors: Borch, Josefine de Stricker, Eisum, Anne-Sofie Vibæk, Krag, Thomas, Vissing, John
Format: Article
Language:English
Subjects:
Adult
Age
Axial myopathy
Deoxyribonucleic acid
DNA
Female
Filamin C-related myopathy
Filamins - genetics
Genes
Histology
Humans
Legs
Magnetic resonance imaging
Male
Middle Aged
Muscle, Skeletal - pathology
Muscles
Muscular Diseases - genetics
Muscular Diseases - pathology
Mutation
Mutation - genetics
Myofibrillar myopathy
Myopathies, Structural, Congenital - diagnosis
Myopathies, Structural, Congenital - genetics
Myopathy
Neurology
Ostomy
Patients
Pedigree
Pharmaceuticals
Phenotype
Phenotypes
Protein aggregates
Proteins
Temporomandibular joint
Trismus
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Summary:•We report three patients with a rare filamin C myofibrillar myopathy.•One patient has progressive contractures of the masseter muscle.•Detailed single myofiber histology demonstrate a concurrent protein aggregation.•MRI on paraspinal muscles reveals replacement of all paraspinal muscles by fat. 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.
ISSN:0303-8467
1872-6968
DOI:10.1016/j.clineuro.2018.11.013