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

• Jessika Johannsen,
• Maja Hempel,
• Thilo Diehl,
• Tobias B. Haack,
• Jonas Denecke

Affiliations

Jessika Johannsen

Department of Pediatrics, University Medical Center Hamburg–Eppendorf, Hamburg, Germany

Maja Hempel

Institute of Human Genetics, University Medical Center Hamburg–Eppendorf, Hamburg, Germany

Thilo Diehl

Department of Pediatrics, University Medical Center Hamburg–Eppendorf, Hamburg, Germany

Tobias B. Haack

Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany

Jonas Denecke

Department of Pediatrics, University Medical Center Hamburg–Eppendorf, Hamburg, Germany