title: [Adult onset nemaline myopathy revealed by respiratory insufficiency].
abstract: BACKGROUND
  We report a case of nemaline myopathy revealed in adulthood by a respiratory insufficiency.
  
  
  METHODS
  A 26-year-old patient, without past history, was admitted with respiratory and right cardiac insufficiency which appeared in a few days. There was a severe restrictive lung impairment with nocturnal hypoventilation. Minor skeletal abnormalities and areflexia suggested a congenital myopathy. Muscle biopsy revealed a nemaline myopathy.
  
  
  CONCLUSIONS
  Respiratory insufficiency is common in nemaline myopathy with infancy or childhood onset, but very rare in adults. It may be explained by multiple mechanisms.
authors.affiliation: Consultation des Maladies Neuromusculaires, Service de Neurologie A, Centre Gui de Chauliac, Montpellier.
authors.forename: P
authors.initials: P
authors.lastname: Befort
authors.forename: L
authors.initials: L
authors.lastname: Landreau
authors.forename: A M
authors.initials: AM
authors.lastname: Pagès
authors.forename: O
authors.initials: O
authors.lastname: Jonquet
authors.forename: M
authors.initials: M
authors.lastname: Pagès
mesh_terms: D000328:Adult; D001284:Atrophy; D001706:Biopsy; D005260:Female; D006801:Humans; D018482:Muscle, Skeletal / Q000473:pathology; D017696:Myopathies, Nemaline / Q000209:etiology* / Q000473:pathology; D009412:Nerve Fibers / Q000473:pathology; D012131:Respiratory Insufficiency / Q000175:diagnosis* / Q000473:pathology