TY  - JOUR
AU  - Annoussamy, Mélanie
AU  - Lilien, Charlotte
AU  - Gidaro, Teresa
AU  - Gargaun, Elena
AU  - Chê, Virginie
AU  - Schara, Ulrike
AU  - Gangfuß, Andrea
AU  - D'Amico, Adele
AU  - Dowling, James J
AU  - Darras, Basil T
AU  - Daron, Aurore
AU  - Hernandez, Arturo
AU  - de Lattre, Capucine
AU  - Arnal, Jean-Michel
AU  - Mayer, Michèle
AU  - Cuisset, Jean-Marie
AU  - Vuillerot, Carole
AU  - Fontaine, Stéphanie
AU  - Bellance, Rémi
AU  - Biancalana, Valérie
AU  - Buj-Bello, Ana
AU  - Hogrel, Jean-Yves
AU  - Landy, Hal
AU  - Servais, Laurent
PY  - 2019
DO  - 10.1212/WNL.0000000000007319
UR  - http://hdl.handle.net/10668/13750
T2  - Neurology
AB  - Because X-linked myotubular myopathy (XLMTM) is a rare neuromuscular disease caused by mutations in the MTM1 gene with a large phenotypic heterogeneity, to ensure clinical trial readiness, it was mandatory to better quantify disease burden and...
LA  - en
KW  - Adolescent
KW  - Adult
KW  - Child
KW  - Child, Preschool
KW  - Disease Progression
KW  - Follow-Up Studies
KW  - Humans
KW  - Infant
KW  - Longitudinal Studies
KW  - Male
KW  - Middle Aged
KW  - Myopathies, Structural, Congenital
KW  - Phenotype
KW  - Prospective Studies
KW  - Young Adult
TI  - X-linked myotubular myopathy: A prospective international natural history study.
TY  - research article
VL  - 92
ER  -