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Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis

PURPOSE: Individuals with X-linked myotubular myopathy (XLMTM) who survive infancy require extensive supportive care, including ventilator assistance, wheelchairs and feeding tubes. Half die before 18 months of age. We explored respiratory support and associated mortality risk in RECENSUS, particula...

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Detalles Bibliográficos
Autores principales: Graham, Robert J, Muntoni, Francesco, Hughes, Imelda, Yum, Sabrina W, Kuntz, Nancy L, Yang, Michele L, Byrne, Barry J, Prasad, Suyash, Alvarez, Rachel, Genetti, Casie A, Haselkorn, Tmirah, James, Emma S, LaRusso, Laurie B, Noursalehi, Mojtaba, Rico, Salvador, Beggs, Alan H
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7054136/
https://www.ncbi.nlm.nih.gov/pubmed/31484632
http://dx.doi.org/10.1136/archdischild-2019-317910