PMID- 25305004
OWN - NLM
STAT- MEDLINE
DCOM- 20150724
LR  - 20220129
IS  - 1432-1459 (Electronic)
IS  - 0340-5354 (Linking)
VI  - 261
IP  - 11
DP  - 2014 Nov
TI  - Inherited disorders of the neuromuscular junction: an update.
PG  - 2234-43
LID - 10.1007/s00415-014-7520-7 [doi]
AB  - Congenital myasthenic syndromes (CMSs) are a group of heterogeneous inherited 
      disorders caused by mutations in genes affecting the function and structure of 
      the neuromuscular junction. This review updates the reader on established and 
      novel subtypes of congenital myasthenia, and the treatment strategies for these 
      increasingly heterogeneous disorders. The discovery of mutations associated with 
      the N-glycosylation pathway and in the family of serine peptidases has shown that 
      causative genes encoding ubiquitously expressed molecules can produce defects at 
      the human neuromuscular junction. By contrast, mutations in lipoprotein-like 
      receptor 4 (LRP4), a long-time candidate gene for congenital myasthenia, and a 
      novel phenotype of myasthenia with distal weakness and atrophy due to mutations 
      in AGRN have now been described. In addition, a pathogenic splicing mutation in a 
      nonfunctional exon of CHRNA1 has been reported emphasizing the importance of 
      analysing nonfunctional exons in genetic analysis. The benefit of salbutamol and 
      ephedrine alone or combined with pyridostigmine or 3,4-DAP is increasingly being 
      reported for particular subtypes of CMS.
FAU - Rodriguez Cruz, Pedro M
AU  - Rodriguez Cruz PM
AD  - Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.
FAU - Palace, Jacqueline
AU  - Palace J
FAU - Beeson, David
AU  - Beeson D
LA  - eng
GR  - 084655/Wellcome Trust/United Kingdom
GR  - MR/M006824/1/MRC_/Medical Research Council/United Kingdom
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
DEP - 20141011
PL  - Germany
TA  - J Neurol
JT  - Journal of neurology
JID - 0423161
SB  - IM
MH  - Genetic Testing/trends
MH  - Humans
MH  - Mutation/genetics
MH  - Myasthenic Syndromes, Congenital/*diagnosis/*genetics
MH  - Neuromuscular Junction/*genetics/*pathology
EDAT- 2014/10/12 06:00
MHDA- 2015/07/25 06:00
CRDT- 2014/10/12 06:00
PHST- 2014/09/23 00:00 [received]
PHST- 2014/09/23 00:00 [accepted]
PHST- 2014/10/12 06:00 [entrez]
PHST- 2014/10/12 06:00 [pubmed]
PHST- 2015/07/25 06:00 [medline]
AID - 10.1007/s00415-014-7520-7 [doi]
PST - ppublish
SO  - J Neurol. 2014 Nov;261(11):2234-43. doi: 10.1007/s00415-014-7520-7. Epub 2014 Oct 
      11.