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Further Observations in Congenital Myasthenic Syndromes
Author(s) -
Engel Andrew G.,
Shen XinMing,
Selcen Duygu,
Sine Steven M.
Publication year - 2008
Publication title -
annals of the new york academy of sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.712
H-Index - 248
eISSN - 1749-6632
pISSN - 0077-8923
DOI - 10.1196/annals.1405.039
Subject(s) - acetylcholinesterase , choline acetyltransferase , congenital myasthenic syndrome , acetylcholine receptor , phenotype , genetics , myasthenia gravis , gene , mutation , genotype , protein subunit , mutation testing , genotype phenotype distinction , biology , aché , medicine , bioinformatics , acetylcholine , receptor , enzyme , biochemistry
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, Na v 1.4, 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.