Beggs, AlanByrne, Barry J.De Chastonay, SabineHaselkorn, TmirahHughes, ImeldaJames, Emma S.Kuntz, Nancy L.Simon, JenniferSwanson, Lindsay C.Yang, Michele L.Yu, Zi‐FanYum, Sabrina W.Prasad, Suyash2018-05-302017Beggs, A. H., B. J. Byrne, S. De Chastonay, T. Haselkorn, I. Hughes, E. S. James, N. L. Kuntz, et al. 2017. “A multicenter, retrospective medical record review of X‐linked myotubular myopathy: The recensus study.” Muscle & Nerve 57 (4): 550-560. doi:10.1002/mus.26018. http://dx.doi.org/10.1002/mus.26018.http://nrs.harvard.edu/urn-3:HUL.InstRepos:37067691ABSTRACT Introduction:: X‐linked myotubular myopathy (XLMTM), characterized by severe hypotonia, weakness, respiratory distress, and early mortality, is rare and natural history studies are few. Methods:: RECENSUS is a multicenter chart review of male XLMTM patients characterizing disease burden and unmet medical needs. Data were collected between September 2014 and June 2016. Results:: Analysis included 112 patients at six clinical sites. Most recent patient age recorded was ≤18 months for 40 patients and >18 months for 72 patients. Mean (SD) age at diagnosis was 3.7 (3.7) months and 54.3 (77.1) months, respectively. Mortality was 44% (64% ≤18 months; 32% >18 months). Premature delivery occurred in 34/110 (31%) births. Nearly all patients (90%) required respiratory support at birth. In the first year of life, patients underwent an average of 3.7 surgeries and spent 35% of the year in the hospital. Discussion: XLMTM is associated with high mortality, disease burden, and healthcare utilization. Muscle Nerve 57: 550–560, 2018en-USClinical Researchcentronuclear myopathycongenital myopathydisease burdennatural historyretrospective chart reviewX‐linked myotubular myopathyJournal Article2018-05-3010.1002/mus.26018