X-linked myotubular myopathy and recurrent spontaneous pneumothorax: A new phenotype?

Neurol Genet

Department of Neurology (P.-O.C., J.S.), University Medical Center Göttingen; Institute of Human Genetics (E.M.C.S., S.P.), University Medical Center Göttingen; Institute of Human Genetics (E.M.C.S.), Heidelberg University; Department of Neuroradiology (K.S.), University Medical Center Göttingen; CeGaT GmbH and Praxis für Humangenetik Tübingen (C.D.O.); Institute of Neuropathology (A.W., S.Z.), University Medical Center Göttingen; and Institute of Neuropathology, Saarland University Medical Center (A.W.), Homburg; and Institute of Human Genetics (S.P.), University Medical Center Göttingen, Germany.

Published: June 2019

Download full-text PDF	Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6515939	PMC
http://dx.doi.org/10.1212/NXG.0000000000000327	DOI Listing

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