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Expanding the phenotype of filamin-C-related myofibrillar myopathy

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@article{d7f92b46df674041be37a3d512f9f9e8,
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.",
author = "Borch, {Josefine de Stricker} and Eisum, {Anne-Sofie Vib{\ae}k} and Thomas Krag and John Vissing",
note = "Copyright {\textcopyright} 2018 Elsevier B.V. All rights reserved.",
year = "2018",
month = nov,
day = "19",
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 BV",

}

RIS

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

N1 - Copyright © 2018 Elsevier B.V. All rights reserved.

PY - 2018/11/19

Y1 - 2018/11/19

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.

U2 - 10.1016/j.clineuro.2018.11.013

DO - 10.1016/j.clineuro.2018.11.013

M3 - Journal article

C2 - 30496909

VL - 176

SP - 30

EP - 33

JO - Clinical Neurology and Neurosurgery

JF - Clinical Neurology and Neurosurgery

SN - 0303-8467

ER -

ID: 55783206