Key result
Genetic testing reveals a pathogenic COL6A1 mutation in atypical Bethlem myopathy with respiratory failure.
Why the study?
Bethlem myopathy typically features mild respiratory involvement and preserved walking, posing diagnostic challenges in late or atypical presentations.
Case Report (n=1)
Answers are grounded in this paper and cite their sources.
Genetic testing is crucial for diagnosing atypical, late-presenting myopathies like Bethlem myopathy, which can mimic immunotherapy-responsive conditions.
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.
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Sureshkumar et al. (2026) conducted a case report in Bethlem myopathy (n=1). Genetic testing was evaluated. Genetic testing identified a pathogenic COL6A1 mutation in a 53-year-old woman with atypical Bethlem myopathy presenting with progressive proximal weakness, contractures, and respiratory failure.
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