{
  "abstract": "Neuromuscular diseases can present with acute respiratory failure with no other symptoms. A 30-year-old woman presented with progressive dyspnoea, culminating in respiratory failure requiring critical care admission for non-invasive ventilation. On examination, she had proximal and distal muscle weakness with bilateral scapular winging. An MR scan of the muscle showed selective fatty replacement in the semitendinosus, tibialis anterior and peroneus longus muscles. Muscle biopsy identified rimmed vacuoles, core-like structures and desmin-positive aggregates. Genetic testing identified a novel heterozygous missense mutation (c.95350G>A, p.Ala31784Thr) in the fibronectin type-III 119 domain of the TTN gene, leading to the diagnosis of hereditary myopathy with early respiratory failure (HMERF). Her muscle weakness has since progressed over 3 years, and she still depends on non-invasive ventilation. Clinicians should consider HMERF in adults presenting with unexplained respiratory failure.",
  "authors": [
    {
      "affiliations": [
        "Neuromuscular Disorders Unit, Neurology Department, Hospital Universitario Ramón y Cajal, IRYCIS, Madrid, Community of Madrid, Spain"
      ],
      "name": "Gabriel García-Alcántara"
    },
    {
      "affiliations": [
        "Neumology Department, Hospital Universitario Ramón y Cajal, IRYCIS, Madrid, Community of Madrid, Spain"
      ],
      "name": "Esther Barbero"
    },
    {
      "affiliations": [
        "Pathology Department, Hospital Universitario Ramón y Cajal, IRYCIS, Madrid, Community of Madrid, Spain"
      ],
      "name": "Ignacio Ruz-Caracuel"
    },
    {
      "affiliations": [
        "Neumology Department, Hospital Universitario Ramón y Cajal, IRYCIS, Madrid, Community of Madrid, Spain"
      ],
      "name": "Carmen Rodríguez"
    },
    {
      "affiliations": [
        "Neuromuscular Disorders Unit, Neurology Department, Hospital Universitario Ramón y Cajal, IRYCIS, Madrid, Community of Madrid, Spain"
      ],
      "name": "Cristina Moreno-López"
    },
    {
      "affiliations": [
        "Neuromuscular Disorders Unit, Neurology Department, Hospital Universitario Ramón y Cajal, IRYCIS, Madrid, Community of Madrid, Spain"
      ],
      "name": "Rodrigo López-Rebolledo"
    },
    {
      "affiliations": [
        "Neuromuscular Disorders Unit, Neurology Department, Hospital Universitario Ramón y Cajal, IRYCIS, Madrid, Community of Madrid, Spain"
      ],
      "name": "Erik S Stiauren"
    },
    {
      "affiliations": [
        "Neuromuscular Disorders Unit, Neurology Department, Hospital Universitario Ramón y Cajal, IRYCIS, Madrid, Community of Madrid, Spain"
      ],
      "name": "Rodrigo Álvarez-Velasco"
    }
  ],
  "title": "Hereditary myopathy with early respiratory failure",
  "uid": "430aa2d5-2290-52a9-9f30-fa908d81b5ec"
}