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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Adult onset of nemaline myopathy presenting as respiratory insufficiency.

A 49-year-old woman was admitted to the hospital for hypercapnia. Pulmonary function testing showed small lung volumes without parenchymal lung disease. Muscle enzyme levels were normal and the EMG was nonspecific. Finally, muscle biopsy revealed abundant nemaline bodies characteristic of nemaline myopathy. Nasal intermittent pressure ventilation was started with a preset pressure ventilator during sleeping hours with a good response.[1]


  1. Adult onset of nemaline myopathy presenting as respiratory insufficiency. Falgà-Tirado, C., Pérez-Pemán, P., Ordi-Ros, J., Bofill, J.M., Balcells, E. Respiration; international review of thoracic diseases. (1995) [Pubmed]
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