Exome sequencing is a valuable approach in critically ill patients with suspected monogenic disease: Diagnosis of X-linked centronuclear myopathy in preterm twins

Affiliations

• ¹ Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. Electronic address: [email protected].
• ² Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
• ³ Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
• ⁴ Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany; Institute of Human Genetics, Technische Universität München, München, Germany.