TY - GEN
T1 - Further observations in congenital myasthenic syndromes
AU - Engel, Andrew G.
AU - Shen, Xin Ming
AU - Selcen, Duygu
AU - Sine, Steven M.
PY - 2008/6
Y1 - 2008/6
N2 - During the past five years many patients suffering from congenital myasthenic syndromes (CMS) have been identified worldwide and novel causative genes and mutations have been discovered. The disease genes now include those encoding each subunit of the acetylcholine receptor (AChR), the ColQ part of acetylcholinesterase (AChE), choline acetyltransferase, Nav1.4, MuSK, and Dok-7. Moreover, emerging genotype-phenotype correlations are providing clues for targeted mutation analysis. This review focuses on the recent observations in selected CMS.
AB - During the past five years many patients suffering from congenital myasthenic syndromes (CMS) have been identified worldwide and novel causative genes and mutations have been discovered. The disease genes now include those encoding each subunit of the acetylcholine receptor (AChR), the ColQ part of acetylcholinesterase (AChE), choline acetyltransferase, Nav1.4, MuSK, and Dok-7. Moreover, emerging genotype-phenotype correlations are providing clues for targeted mutation analysis. This review focuses on the recent observations in selected CMS.
KW - Acetylcholine receptor
KW - Acetylcholinesterase
KW - Choline acetyltransferase
KW - Congenital myasthenic syndromes
KW - Dok-7
UR - http://www.scopus.com/inward/record.url?scp=45249107304&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=45249107304&partnerID=8YFLogxK
U2 - 10.1196/annals.1405.039
DO - 10.1196/annals.1405.039
M3 - Conference contribution
C2 - 18567859
AN - SCOPUS:45249107304
SN - 9781573316873
T3 - Annals of the New York Academy of Sciences
SP - 104
EP - 113
BT - Myasthenia Gravis and Related Disorders 11th International Conference
PB - Blackwell Publishing Inc.
ER -