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Published in 2022 at "JAMA Neurology"
DOI: 10.1001/jamaneurol.2022.1357
Abstract: Key Points Question Is there an autoantibody biomarker of immune-mediated rippling muscle disease (iRMD)? Findings In this cohort study, autoantibodies to caveolae-associated protein 4 (cavin-4) were identified and orthogonally validated in 8 of 10 patients…
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Keywords:
biomarker immune;
disease;
immune mediated;
muscle ... See more keywords
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Published in 2018 at "Neurology"
DOI: 10.1212/wnl.0000000000006427
Abstract: A 43-year-old man described adolescence-onset abnormal muscle contractions. On examination, there was hypertrophy (figure) with normal power of thigh muscles but mild weakness of distal leg muscles (Medical Research Council grade 4+/5). Muscle percussion and…
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Keywords:
muscle;
muscle disease;
rippling muscle;
video neuroimages ... See more keywords
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Published in 2021 at "Internal medicine"
DOI: 10.2169/internalmedicine.8146-21
Abstract: We herein report a 63-year-old rippling muscle disease (RMD) patient who presented with painless stiffness, muscle hypertrophy and muscle contractions elicited by mechanical stimulation. He also showed irregular toe jerks and a slightly elevated level…
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Keywords:
muscle;
toe jerks;
rippling muscle;
irregular toe ... See more keywords