Structural abnormalities of the AChR caused by mutations underlying congenital myasthenic syndromes.
The objective was to define the molecular mechanisms underlying congenital myasthenic syndromes (CMS) by studying mutations within genes encoding the acetylcholine receptor (AChR) and related proteins at the neuromuscular junction. It was found that mutations within muscle AChRs are the most common cause of CMS. The majority are located within the epsilon-subunit gene and result in AChR deficiency.
Beeson
David
D
Neurosciences Group, Weatherall Institute of Molecular Medicine, The John Radcliffe, Headington, Oxford OX3 9DS, United Kingdom. dbeeson@hammer.imm.ox.ac.uk
Webster
Richard
R
Ealing
John
J
Croxen
Rebecca
R
Brownlow
Sharon
S
Brydson
Martin
M
Newsom-Davis
John
J
Slater
Clarke
C
Hatton
Chris
C
Shelley
Chris
C
Colquhoun
David
D
Vincent
Angela
A
D000483:Alleles; D000818:Animals; D002460:Cell Line; D004252:DNA Mutational Analysis; D005091:Exons; D005110:Extracellular Space / Q000235:genetics / Q000378:metabolism; D005260:Female; D006801:Humans; D017403:In Situ Hybridization / Q000379:methods; D008297:Male; D009154:Mutation; D020294:Myasthenic Syndromes, Congenital / Q000145:classification / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D009469:Neuromuscular Junction / Q000002:abnormalities* / Q000235:genetics / Q000378:metabolism; D018408:Patch-Clamp Techniques; D018807:Polymorphism, Single-Stranded Conformational; D017433:Protein Structure, Secondary; D021122:Protein Subunits / Q000235:genetics / Q000378:metabolism; D011950:Receptors, Cholinergic / Q000737:chemistry* / Q000172:deficiency / Q000235:genetics / Q000502:physiology; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014162:Transfection
D021122:Protein Subunits; D011950:Receptors, Cholinergic