期刊
MYASTHENIA GRAVIS AND RELATED DISORDERS: 11TH INTERNATIONAL CONFERENCE
卷 1132, 期 -, 页码 104-113出版社
WILEY-BLACKWELL
DOI: 10.1196/annals.1405.039
关键词
congenital myasthenic syndromes; acetylcholinesterase; choline acetyltransferase; acetylcholine receptor; Dok-7
资金
- NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE [R01NS031744, R01NS006277] Funding Source: NIH RePORTER
- NINDS NIH HHS [R01 NS006277, R01 NS031744] Funding Source: Medline
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 (ACNE), 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.
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