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Frequency and Phenotype of Myotubular Myopathy Amongst Danish Patients with Congenital Myopathy Older than 5 Years

Background: Centronuclear myopathy (CNM) is one of four main subtypes of congenital myopathy. X-linked myotubular myopathy (XLMTM) is considered one of the most severe forms, but survivors past infancy have been described. However, detailed information on XLMTM phenotypes in patients who survive inf...

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Detalles Bibliográficos
Autores principales: Werlauff, U., Petri, H., Witting, N., Vissing, J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: IOS Press 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5271486/
https://www.ncbi.nlm.nih.gov/pubmed/27858727
http://dx.doi.org/10.3233/JND-140040