Exome Sequencing is a Valuable Approach in Critically Ill Patients with Suspected Monogenic Disease: Diagnosis of X-linked Centronuclear Myopathy in Preterm Twins

X-linked centronuclear myopathy (CNMX) is a severe congenital myopathy resulting from mutations in the myotubularin (MTM1) gene.1 Patients with CNMX usually present with profound weakness, muscular hypotonia, and respiratory failure in the neonatal period.2 Diagnosis is based on characteristic histopathological findings in skeletal muscle specimens from males with suggestive clinical features and the identification of supporting genetic defects.3 However, muscle biopsy requiring general anesthesia can be a high-risk procedure in premature infants or in patients with a poor general condition.

Source: Pediatrics and Neonatology - December 15, 2016 Category: Perinatology & Neonatology Authors: Jessika Johannsen, Maja Hempel, Thilo Diehl, Tobias B. Haack, Jonas Denecke Tags: Brief communication Source Type: research