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- P Befort, L Landreau, A M Pagès, O Jonquet, and M Pagès.
- Consultation des Maladies Neuromusculaires, Service de Neurologie A, Centre Gui de Chauliac, Montpellier.
- Rev Neurol France. 2006 Dec 1;162(12):1260-2.
IntroductionWe report a case of nemaline myopathy revealed in adulthood by a respiratory insufficiency.Case ReportA 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.ConclusionRespiratory insufficiency is common in nemaline myopathy with infancy or childhood onset, but very rare in adults. It may be explained by multiple mechanisms.
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