Further observations in congenital myasthenic syndromes.
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ABSTRACT:
SUBMITTER: Engel AG
PROVIDER: S-EPMC3478107 | biostudies-literature | 2008
REPOSITORIES: biostudies-literature
Publications
Further observations in congenital myasthenic syndromes.
Engel Andrew G AG Shen Xin-Ming XM Selcen Duygu D Sine Steven M SM
Annals of the New York Academy of Sciences 20080101
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 fo ...[more]
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