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A difficult case
Tubular aggregate myopathy causing progressive fatiguable weakness
  1. Qihua Fan1,
  2. Kelly Gwathmey1,
  3. Xinli Du1,
  4. Arjun Seth2,
  5. Andrea Corse3
  1. 1Neurology, Virginia Commonwealth University, Richmond, Virginia, USA
  2. 2Neurology, Northwestern University, Evanston, Illinois, USA
  3. 3Neurology, Johns Hopkins, Baltimore, Maryland, USA
  1. Correspondence to Dr Qihua Fan, Neurology, Virginia Commonwealth University, Richmond, Virginia, USA; qihua.fan{at}vcuhealth.org

Abstract

Tubular aggregate myopathies comprise a rare group of disorders with characteristic pathological findings and heterogeneous phenotypes, including myasthenic syndrome. We describe a patient with tubular aggregate myopathy who presented with fatiguable weakness improving with pyridostigmine, respiratory involvement and possible cardiac manifestations. We highlight the utility of muscle biopsy in atypical myasthenic syndrome.

  • MYASTHENIA
  • MYOPATHY
  • MUSCLE DISEASE
  • NEUROPATHOLOGY, MUSCLE

Data availability statement

Data sharing not applicable as no datasets generated and/or analysed for this study.

http://dx.doi.org/10.1136/pn-2023-003838

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    Data availability statement

    Data sharing not applicable as no datasets generated and/or analysed for this study.

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    Footnotes

    • Contributors QF, KG and XD provided clinical care. AS and AC provided significant guidance in clinical reasoning. QF took the lead in writing the manuscript. All authors provided critical feedback and helped shape the care plan for the patient and finalising the manuscript.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests AC reports a consulting relationship with UCB Biosciences Inc and Argenx US, Inc. KG reports a consulting or advisory and speaking lecturer relationship with Alexion Pharmaceuticals Inc, and a consulting or advisory relationship with UCB Biosciences Inc and Argenx US, Inc.

    • Provenance and peer review Not commissioned; externally reviewed by James Lilleker, Manchester, UK.

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