Clinical features of the myasthenic syndrome arising from mutations in GMPPB.

ABSTRACT:

Background

Congenital myasthenic syndrome (CMS) due to mutations in GMPPB has recently been reported confirming the importance of glycosylation for the integrity of neuromuscular transmission.

Methods

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 in the differential diagnosis of this new entity.

Results

All patients had prominent limb-girdle weakness with minimal or absent craniobulbar manifestations. Presentation was delayed beyond infancy with proximal muscle weakness and most patients recall poor performance in sports during childho

SUBMITTER: Rodriguez Cruz PM 

PROVIDER: S-EPMC6047737 | biostudies-literature | 2016 Aug

REPOSITORIES: biostudies-literature