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A multicenter, retrospective medical record review of X-linked myotubular myopathy: The recensus study
Open accessAbstract
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, 2018
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Approximately 74% of XLMTM patients surviving more than 18 months require tracheostomy and mechanical ventilation.
“Approximately 74% of patients surviving >18 months require tracheostomy and mechanical ventilation.34”
From Current clinical applications of in vivo gene therapy with AAVs (2021) · cites this paper as [34]
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References 40 · Cited by 83
Research works printed but not linked: 1
- Das S, 2011, GeneReviews® [Internet]
Metadata
- Authors
- Beggs, A. H., Byrne, B. J., De Chastonay, S., Haselkorn, T., Hughes, I., James, E. S., Kuntz, N. L., Simon, J., Swanson, L. C., Yang, M. L., Yu, Z., Yum, S. W., & Prasad, S.
- Affiliations
- Boston Children's Hospital (US)
- University of Florida Health (US)
- Cure CMD Torrance California USA
- EpiMetrix, Inc. Los Altos California USA
- Royal Manchester Children's Hospital (GB)
- Audentes Therapeutics (United States) (US)
- Lurie Children's Hospital (US)
- Statistics Collaborative (US)
- Children's Hospital Colorado (US)
- Children's Hospital of Philadelphia (US)
- Corresponding author
- Beggs, Alan H.
- ORCID
- Venue
- Muscle & Nerve
- Publisher
- Wiley
- Published
- 2017-12-22
- Volume
- 57
- Issue
- 4
- Pages
- 550-560
- ISSN
- 0148-639X (ISSN-L)
- 1097-4598
- PMC
- PMC5900738
- OpenAlex
- W2769220832
- Cited by
- 83
- References
- 40
- Citations by year
- 2026: 9 · 2025: 8 · 2024: 9 · 2023: 14 · 2022: 9 · 2021: 14 · 2020: 9 · 2019: 6 · 2018: 4 · 2017: 1
- FWCI
- 3.14
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Muscle & Nerve (publishedVersion, cc-by-nc)
- Europe PMC (PubMed Central) (publishedVersion, other-oa)
- PubMed Central (publishedVersion, cc-by-nc)
- PubMed (publishedVersion)
- Digital Access to Scholarship at Harvard (DASH) (Harvard University) (submittedVersion, cc-by)
- Funders
- National Institutes of Health (R01 AR044345)
- Muscular Dystrophy Association (MDA383249)
- National Institute of Arthritis and Musculoskeletal and Skin Diseases
- Topics
- Health Sciences › Medicine › Genetics (clinical) › Neurogenetic and Muscular Disorders Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Muscle Physiology and Disorders
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Keywords
- X-linked myotubular myopathy, natural history (disease), disease burden, mortality, health care utilization, respiratory support, preterm birth, hypotonia, unmet medical needs, pediatric patients
- MeSH terms
- Adolescent, Age Factors, Child, Child, Preschool, Humans, Infant, Infant, Newborn, Male, Mortality, Respiration, Artificial, Retrospective Studies, Surgical Procedures, Operative, Myopathies, Structural, Congenital, Premature Birth, Young Adult
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