Title: PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome
Authors: RĂ©gal, Luc
Shen, Xin-Ming
Selcen, Duygu
Verhille, Chantal
Meulemans, Sandra
Creemers, John # ×
Engel, Andrew G #
Issue Date: Apr-2014
Publisher: Advanstar Communications
Series Title: Neurology vol:82 issue:14 pages:1254-60
Abstract: To investigate the genetic and physiologic basis of the neuromuscular symptoms of hypotonia-cystinuria syndrome (HCS) and isolated PREPL deficiency, and their response to therapy.
ISSN: 0028-3878
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Laboratory for Biochemical Neuroendocrinology
× corresponding author
# (joint) last author

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