{
  "abstract": "Bethlem myopathy is a rare collagen VI-related muscle disorder characterised by slowly progressive proximal weakness and joint contractures. Walking is usually preserved into adulthood and respiratory involvement is relatively mild. A 53-year-old woman had longstanding proximal limb weakness, early contractures and respiratory insufficiency. Despite an apparent clinical improvement on follow-up, initially attributed to immunotherapy, genetic testing ultimately identified a pathogenic COL6A1 mutation. This case highlights diagnostic challenges in late-presenting myopathies and emphasises the importance of genetic testing in atypical cases.",
  "authors": [
    {
      "affiliations": [
        "Institute of Neurology, National Hospital of Sri Lanka, Colombo, Sri Lanka"
      ],
      "name": "Sujarnie Sureshkumar"
    },
    {
      "affiliations": [
        "Clinical Genetics, National Hospital of Sri Lanka, Colombo, WP, Sri Lanka"
      ],
      "name": "Madhumali Adeshika¹"
    },
    {
      "affiliations": [
        "Institute of Neurology, National Hospital of Sri Lanka, Colombo, Sri Lanka"
      ],
      "name": "Bimsara Senanayake"
    }
  ],
  "title": "Progressive proximal weakness with contractures and respiratory failure: an unusual presentation of Bethlem myopathy",
  "uid": "be6352d1-c82c-501b-9f2b-9ade0fe2d7f9"
}