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P.419 - Cataracts, cognitive impairment, and congenital myasthenic syndrome with myopathic features caused by mutation in GMPPB gene.

Authors :
Nascimento, A.
Ortez, C.
Natera, D.
Frongia, A.
Alarcon, M.
Itzep, D.
Jou, C.
Codina, A.
Corbera, J.
Jimenez - Mallebrera, C.
Rodriguez, M.
González, L.
Gallano, P.
Colomer, J.
Source :
Neuromuscular Disorders. Oct2017 Supplement 2, Vol. 27, pS222-S222. 1p.
Publication Year :
2017

Details

Language :
English
ISSN :
09608966
Volume :
27
Database :
Academic Search Index
Journal :
Neuromuscular Disorders
Publication Type :
Academic Journal
Accession number :
125081998
Full Text :
https://doi.org/10.1016/j.nmd.2017.06.459