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Rev Neurol (Paris). 2006 Dec;162(12):1260-2.

[Adult onset nemaline myopathy revealed by respiratory insufficiency].

[Article in French]

Author information

1
Consultation des Maladies Neuromusculaires, Service de Neurologie A, Centre Gui de Chauliac, Montpellier.

Abstract

INTRODUCTION:

We report a case of nemaline myopathy revealed in adulthood by a respiratory insufficiency.

CASE REPORT:

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.

CONCLUSION:

Respiratory insufficiency is common in nemaline myopathy with infancy or childhood onset, but very rare in adults. It may be explained by multiple mechanisms.

PMID:
17151520
[Indexed for MEDLINE]
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