TY  - JOUR
AU  - Molera, Cristina
AU  - Sarishvili, Tinatin
AU  - Nascimento, Andrés
AU  - Rtskhiladze, Irakli
AU  - Muñoz Bartolo, Gema
AU  - Fernández Cebrián, Santiago
AU  - Valverde Fernández, Justo
AU  - Muñoz Cabello, Beatriz
AU  - Graham, Robert J
AU  - Miller, Weston
AU  - Sepulveda, Bryan
AU  - Kamath, Binita M
AU  - Meng, Hui
AU  - Lawlor, Michael W
PY  - 2022
DO  - 10.3233/JND-210712
UR  - http://hdl.handle.net/10668/20513
T2  - Journal of neuromuscular diseases
AB  - 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...
LA  - en
KW  - X-linked myotubular myopathy
KW  - hepatobiliary disease
KW  - intrahepatic cholestasis
KW  - liver abnormalities
KW  - myotubularin
KW  - Biopsy
KW  - Cholestasis, Intrahepatic
KW  - Fatal Outcome
KW  - Humans
KW  - Infant
KW  - Male
KW  - Myopathies, Structural, Congenital
TI  - Intrahepatic Cholestasis Is a Clinically Significant Feature Associated with Natural History of X-Linked Myotubular Myopathy (XLMTM): A Case Series and Biopsy Report.
TY  - research article
VL  - 9
ER  -