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Hypercapnic respiratory failure in pregnancy: A rare presentation of a congenital myopathy

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Obstetric Medicine: The Medicine of Pregnancy

Published online on

Abstract

Obstetric Medicine, Ahead of Print.
Here we present an unusual case of what was initially asymptomatic hypercapnic respiratory failure presenting in pregnancy and the complex investigative journey, culminating in a diagnosis of ryanodine receptor-1-related congenital myopathy. Late ...