Type | Description |
---|---|
Definition | muscle associated receptor tyrosine kinase |
Date | Results | Publications |
---|---|---|
2020-11-21 13:21:00 | Congenital myasthenia syndrome in a Chinese family with mutations in MUSK: A hotspot mutation and literature review. | 32253145 |
2020-04-25 10:08:00 | MUSK mutation is associated with vocal cord paralysis. | 30719842 |
2019-08-03 12:09:00 | Though MuSK(+) myasthenia gravis (MG) is still a severe disease, we have observed a steady reduction in the rate of respiratory crisis and a significant improvement in the clinical outcome, both likely related to earlier diagnosis and timely treatment. Despite the improved management, MuSK(+) MG patients tend to remain dependent on long-term immunosuppressive treatment and may develop permanent disabling weakness. Review. | 29266255 |
2019-08-03 11:10:00 | Pathogenic autoantibodies to muscle-specific tyrosine kinase (MuSK) can be found in patients with myasthenia gravis (MG) who do not have detectable antibodies to the acetylcholine receptor. Although the autoantibody-mediated pathology is well understood, much remains to be learned about the cellular immunology that contributes to autoantibody production. Review. | 29381221 |
2019-05-25 10:46:00 | Recessive variants of MuSK are associated with late onset Congenital myasthenic syndrome and predominant limb girdle weakness. | 29704306 |
Type | IDs |
---|---|
Synonymous | CMS9, FADS |
Gene |
UniProtKB-ID:
MUSK_HUMAN,
A0A087WSY1_HUMAN
UniprotKB:
O15146,
A0A087WSY1
UniParc:
UPI000387D2F9,
UPI00005DC742,
UPI000006D2F7,
UPI00005DC741
EMBL:
AL513328,
BC109098,
AL157881,
AF006464,
BC109099
Ensembl:
ENSG00000030304
KO:
hsa:4593
|
Nucleutide sequences |
EMBL-CDS:
AAB63044.1,
AAI09100.1,
AAI09099.1
Ensembl_TRS:
ENST00000189978,
ENST00000374448,
ENST00000416899
|
Protein sequencees |
Ensembl_PRO:
ENSP00000189978,
ENSP00000363571,
ENSP00000393608
RefSeq:
NP_001159753.1,
XP_005252052.1,
NP_001159752.1,
XP_016870223.1,
NP_001356327.1,
XP_005252053.1,
NP_005583.1,
XP_011517010.1,
XP_005252051.1
|
Others |
UniRef100:
UniRef100_A0A087WSY1,
UniRef100_O15146
UniRef90:
UniRef90_Q61006
UniRef50:
UniRef50_Q61006
UniGene:
Hs.521653
CCDS:
CCDS48005.1,
CCDS75874.1
|
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