Intrahepatic Cholestasis Is a Clinically Significant Feature Associated with Natural History of X-Linked Myotubular Myopathy (XLMTM): A Case Series and Biopsy Report

X-linked myotubular myopathy (XLMTM) is a rare, life-threatening congenital myopathy characterized by profound skeletal muscle weakness, respiratory distress, and motor dysfunction. However, pathology is not limited to muscle and can be associated with life-threatening hepatic peliosis. Hepatobiliar...

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Detalles Bibliográficos
Autores principales: Molera, Cristina, Sarishvili, Tinatin, Nascimento, Andrés, Rtskhiladze, Irakli, Muñoz Bartolo, Gema, Fernández Cebrián, Santiago, Valverde Fernández, Justo, Muñoz Cabello, Beatriz, Graham, Robert J., Miller, Weston, Sepulveda, Bryan, Kamath, Binita M., Meng, Hui, Lawlor, Michael W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: IOS Press 2022
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8842755/
https://www.ncbi.nlm.nih.gov/pubmed/34366366
http://dx.doi.org/10.3233/JND-210712

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