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.
Neurosciences Group, Weatherall Institute of Molecular Medicine, The John Radcliffe, Headington, Oxford OX3 9DS, United Kingdom. dbeeson@hammer.imm.ox.ac.uk
David
D
Beeson
Richard
R
Webster
John
J
Ealing
Rebecca
R
Croxen
Sharon
S
Brownlow
Martin
M
Brydson
John
J
Newsom-Davis
Clarke
C
Slater
Chris
C
Hatton
Chris
C
Shelley
David
D
Colquhoun
Angela
A
Vincent
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