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

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

^*Corresponding author af dette arbejde

Institut for Klinisk Medicin

2 Citationer (Scopus)

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.

Originalsprog	Engelsk
Tidsskrift	Clinical Neurology and Neurosurgery
Vol/bind	176
Sider (fra-til)	30-33
Antal sider	4
ISSN	0303-8467
DOI	https://doi.org/10.1016/j.clineuro.2018.11.013
Status	Udgivet - 2019

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10.1016/j.clineuro.2018.11.013

Citationsformater

@article{7e81385e2377486c8c88037962c8c4b9,

title = "Expanding the phenotype of filamin-C-related myofibrillar myopathy",

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",

author = "Borch, {Josefine de Stricker} and Eisum, {Anne Sofie Vib{\ae}k} and Thomas Krag and John Vissing",

year = "2019",

doi = "10.1016/j.clineuro.2018.11.013",

language = "English",

volume = "176",

pages = "30--33",

journal = "Clinical Neurology and Neurosurgery",

issn = "0303-8467",

publisher = "Elsevier",

}

TY - JOUR

T1 - Expanding the phenotype of filamin-C-related myofibrillar myopathy

AU - Borch, Josefine de Stricker

AU - Eisum, Anne Sofie Vibæk

AU - Krag, Thomas

AU - Vissing, John

PY - 2019

Y1 - 2019

N2 - 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.

AB - 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.

KW - Axial myopathy

KW - Filamin C-related myopathy

KW - Myofibrillar myopathy

KW - Protein aggregates

KW - Trismus

U2 - 10.1016/j.clineuro.2018.11.013

DO - 10.1016/j.clineuro.2018.11.013

M3 - Journal article

C2 - 30496909

AN - SCOPUS:85057101948

SN - 0303-8467

VL - 176

SP - 30

EP - 33

JO - Clinical Neurology and Neurosurgery

JF - Clinical Neurology and Neurosurgery

ER -

Expanding the phenotype of filamin-C-related myofibrillar myopathy

Abstract

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