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Congenital myasthenic syndrome due to DPAGT 1 mutations mimicking congenital myopathy in an Irish family
Author(s) -
BogdanovaMihaylova P.,
Murphy R. P. J.,
Alexander M. D.,
McHugh J. C.,
Foley A. Reghan,
Brett F.,
Murphy S. M.
Publication year - 2018
Publication title -
european journal of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.881
H-Index - 124
eISSN - 1468-1331
pISSN - 1351-5101
DOI - 10.1111/ene.13532
Subject(s) - medicine , congenital myasthenic syndrome , irish , myopathy , content (measure theory) , pediatrics , linguistics , philosophy , mathematical analysis , mathematics , receptor , acetylcholine receptor