X-linked myotubular myopathy: a clinical report and a review of the mild phenotype

INTRODUCTION. X-linked myotubular myopathy is a rare centronuclear myopathy that affects approximately 1 in 50,000 male newborns caused by pathogenic variants in the myotubularin 1 gene (MTM1). The clinical severity varies, however the need for ventilatory support occurs almost invariably. CASE REPO...

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Detalles Bibliográficos
Autores principales: Barreto-Mota, Ricardo, Figueirinha, Joana, Quental, Rita, Fonseca, Jacinta, Melo, Cláudia, Sampaio, Mafalda, Sousa, Raquel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Viguera Editores (Evidenze Group) 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10478112/
https://www.ncbi.nlm.nih.gov/pubmed/36973888
http://dx.doi.org/10.33588/rn.7607.2021447

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10478112/
https://www.ncbi.nlm.nih.gov/pubmed/36973888
http://dx.doi.org/10.33588/rn.7607.2021447

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