title: Impairment of respiratory function in late-onset distal myopathy due to MATR3 Mutation.
abstract: BACKGROUND
  Recently, mutations in the MATR3 gene were found to cause late-onset distal myopathy. The frequency and impact of respiratory involvement are not clear.
  
  
  METHODS
  Respiratory parameters [maximum vital capacity (VCmax); forced expiratory volume (FEV1 ); peak expiratory flow (PEF), postural drop of VCmax from sitting to supine, maximum inspiratory muscle pressure (PImax), mouth occlusion pressure after 100 ms (P 0.1), peak cough flow, and blood-gas analysis] were monitored prospectively at baseline, and then 6 months and 12 months later in 8 patients with genetically confirmed MATR3 myopathy.
  
  
  RESULTS
  All patients showed involvement of respiratory function. Six of 8 reported exertional dyspnea. At the end of follow-up, 5 of 8 had decreased VC, 7 of 8 had reduced PImax, and 5 of 7 had decreased partial pressure of oxygen (PO2 ). Within 12 months, respiratory parameters deteriorated non-significantly. No patient required non-invasive ventilation.
  
  
  CONCLUSIONS
  There is a high risk of abnormal respiratory function with progressive worsening in MATR3 myopathy.
authors: Department of Neurology, Martin Luther University Halle-Wittenberg, Ernst Grube-Strasse 40, D-06120, Halle (Saale), Germany.
authors: Torsten
authors: T
authors: Kraya
authors: Pulmonology Unit, Department of Internal Medicine Martin Luther University Halle-Wittenberg, Halle (Saale), Germany.
authors: Bernd
authors: B
authors: Schmidt
authors: Department of Neurology, Martin Luther University Halle-Wittenberg, Ernst Grube-Strasse 40, D-06120, Halle (Saale), Germany.
authors: Tobias
authors: T
authors: Müller
authors: Department of Neurology, Martin Luther University Halle-Wittenberg, Ernst Grube-Strasse 40, D-06120, Halle (Saale), Germany.|Department of Neurology, Vivantes Humboldt-Klinikum, Berlin, Germany.
authors: Frank
authors: F
authors: Hanisch
mesh_terms: D000328:Adult; D000368:Aged; D049310:Distal Myopathies / Q000150:complications* / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D034521:Nuclear Matrix-Associated Proteins / Q000235:genetics*; D016601:RNA-Binding Proteins / Q000235:genetics*; D012120:Respiration Disorders / Q000209:etiology*
chemical_list: C518587:MATR3 protein, human; D034521:Nuclear Matrix-Associated Proteins; D016601:RNA-Binding Proteins
keywords: MATR3; late-onset distal myopathy; matrin 3; respiratory function; vital capacity