Ontology highlight
ABSTRACT:
SUBMITTER: Rodriguez Cruz PM
PROVIDER: S-EPMC6047737 | biostudies-literature | 2016 Aug
REPOSITORIES: biostudies-literature
Rodríguez Cruz Pedro M PM Belaya Katsiaryna K Basiri Keivan K Sedghi Maryam M Farrugia Maria Elena ME Holton Janice L JL Liu Wei Wei WW Maxwell Susan S Petty Richard R Walls Timothy J TJ Kennett Robin R Pitt Matthew M Sarkozy Anna A Parton Matt M Lochmüller Hanns H Muntoni Francesco F Palace Jacqueline J Beeson David D
Journal of neurology, neurosurgery, and psychiatry 20160504 8
<h4>Background</h4>Congenital myasthenic syndrome (CMS) due to mutations in GMPPB has recently been reported confirming the importance of glycosylation for the integrity of neuromuscular transmission.<h4>Methods</h4>Review of case notes of patients with mutations in GMPPB to identify the associated clinical, neurophysiological, pathological and laboratory features. In addition, serum creatine kinase (CK) levels within the Oxford CMS cohort were retrospectively analysed to assess its usefulness i ...[more]