Hepatobiliary disease in XLMTM: a common comorbidity with potential impact on treatment strategies

BACKGROUND: X-linked myotubular myopathy (XLMTM) is a rare congenital myopathy resulting from pathogenic variants in the MTM1 gene. Affected male subjects typically present with severe hypotonia and respiratory distress at birth and they often require intensive supportive care. Long-term survivors a...

Descripción completa

Detalles Bibliográficos
Autores principales: D’Amico, Adele, Longo, Antonella, Fattori, Fabiana, Tosi, Michele, Bosco, Luca, Chiarini Testa, Maria Beatrice, Paglietti, Maria Giovanna, Cherchi, Claudio, Carlesi, Adelina, Mizzoni, Irene, Bertini, Enrico
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8513353/
https://www.ncbi.nlm.nih.gov/pubmed/34641930
http://dx.doi.org/10.1186/s13023-021-02055-1

Ejemplares similares

Ejemplares similares