{
  "abstract": "Congenital myasthenic syndromes (CMS) are a rare, heterogeneous group of disorders caused by pathogenic variants in genes encoding proteins essential for neuromuscular transmission. DOK7 variants are among the most common causes of CMS and one of the subtypes that may worsen with pyridostigmine. We report two patients who presented in adulthood with fatigable limb girdle weakness, initially diagnosed with seronegative myasthenia gravis, who slowly progressed over time despite escalating treatment and eventually needed intensive care admission. Revisiting the history led to the diagnosis of DOK7 CMS. Both patients improved after stopping immunosuppressants and pyridostigmine and starting salbutamol. These cases highlight the importance of considering CMS in patients with seronegative myasthenia gravis.",
  "authors": [
    {
      "affiliations": [
        "Department of Clinical Neurology, Neurology Department, John Radcliffe Hospital, Oxford, UK"
      ],
      "name": "Leighann Henehan"
    },
    {
      "affiliations": [
        "Department of Neurosciences, Mental Health and Sensory Organs, University of Rome La Sapienza, Rome, Italy"
      ],
      "name": "Elena Rossini"
    },
    {
      "affiliations": [
        "Department of Clinical Neurology, Neuromuscular Service, The Royal London Hospital, London, UK"
      ],
      "name": "Isobel Sarah Platt"
    },
    {
      "affiliations": [
        "Neurosciences Group, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK"
      ],
      "name": "Yin Yao Dong"
    },
    {
      "affiliations": [
        "Neurosciences Group, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK"
      ],
      "name": "David Beeson"
    },
    {
      "affiliations": [
        "Department of Clinical Neurology, Gloucestershire Royal Hospital, Gloucester, UK"
      ],
      "name": "Geraint N Fuller"
    },
    {
      "affiliations": [
        "Department of Clinical Neurology, John Radcliffe Hospital, Oxford, UK",
        "Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK"
      ],
      "name": "Maria Isabel Leite"
    },
    {
      "affiliations": [
        "Department of Clinical Neurology, John Radcliffe Hospital, Oxford, UK",
        "Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK"
      ],
      "name": "Jacqueline Palace"
    }
  ],
  "title": "Myasthenic syndromes: mistaking genetic for acquired",
  "uid": "b422dd60-d6df-57d0-921b-5d9ee7bfa6ad"
}