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kathie
format:
type receptor abbrev reference link comment
muscle Acethylcholine blocking mACH MG
http://www.myasthenia.org/HealthProf...rviewofMG.aspx may impair binding of acetylcholine to the receptor, leading to poor muscle contraction
muscle Acethylcholine binding mACH MG
http://cdn.intechweb.org/pdfs/20680.pdf can activate complement mediated membrane damage and lead to loss of AChR.
muscle Acethylcholine modulating mACH MG
http://www.hindawi.com/journals/ad/2011/740583/ causes receptor endocytosis (accelerated degredation) resulting in loss of AChR expression, which correlates with clinical severity of disease
neuronal Acethylcholine nACH AAG/ POTS/ AGID
http://www.ncbi.nlm.nih.gov/pubmed/10514242 ,
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC153777/,
http://www.neurology.org/content/50/6/1806.short ,
http://lib.bioinfo.pl/pmid:14732619 ,
http://www.mayomedicallaboratories.c...nit_code=89886 Autoimmune autonomic ganglionopathy, Autoimmune gastrointestinal dysmotility (AGID)
Muscle specific kinease Musk MG
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1739764/ ,
http://neuromuscular.wustl.edu/mtime/mgthy.html predominantly female with more prominent facial and bulbar involvement and more frequent crises. Disease onset tended to be earlier. lack of improvement with, anticholinesterase agents. Somewhat better response was observed with steroids and plasma exchange
titin striated muscle antibody SM Ab MG
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3139883/ Anti-titin antibodies are a sensitive marker of thymoma associated with MG in patients 60 years and younger, seen in other immune disorders. Seen in rippling muscle syndrome which may proceed a MG diagnosis, Respiratory difficulties at MG onset
actnin striated muscle antibody MG
http://emedicine.medscape.com/article/1171206-workup also seen in celiac disease
ryanodine striated muscle antibody RyR MG
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3139883/ more common in MG with thymoma, increases the risk for severe MG, highest rate of bulbar, respiratory and neck involvement at MG onset, distinctive non-limb MG symptom profile
Kv1.4 /KCNA4 Voltage-gated K channel VGKC MG
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3139883/ Issacs syndrome, severe MG, thymoma, and concomitant myocarditis and/or myositis
voltage-gated calcium channel VGCC LEMS
http://www.privatemdlabs.com/lp/VGCCA_Test.php Lambert-Eaton myasthenic syndrome
low-density lipoprotein receptor-related protein 4 LRP4 MG
http://www.ncbi.nlm.nih.gov/pubmed/21814823 ,
http://www.ncbi.nlm.nih.gov/pubmed/22941261 50% of seronegatice MG have LRP4 antibody
rapsyn MG
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1851878/ ,
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2442426/ congenital myasthenic syndrome
collapsin response mediator protein 5 CRMP5
http://www.ncbi.nlm.nih.gov/pubmed/19151024 ,
http://www.ncbi.nlm.nih.gov/pubmed/18931014 more than twice as frequent, and the antibody levels are higher in patients with thymoma and MG
Transient receptor potential canonical-3 TRPC3
http://www.sciencedirect.com/science...65572808001835 detected in thymoma-associated MG patients
GLUTAMIC ACID DECARBOXYLASE GAD65
http://www.mayomedicallaboratories.c...Overview/81596 ,
http://www.mayomedicallaboratories.c...rpretive/81596 autoimmune diabetes, stiff‐person syndrome and also in other neurological syndromes, including cerebellar ataxia and epilepsy
Antineuronal nuclear autoantibody-type 1 (ANNA-1) ANNA-1
http://neurology.org/content/59/6/929.abstract Autoimmune gastrointestinal dysmotility (AGID), Seropositive patients usually present with subacute neurological symptoms and signs such as encephalopathy; cerebellar ataxia; myelopathy; radiculopathy; plexopathy; or sensory, sensorimotor, or autoimmune neuropathy, with or without a neuromuscular transmission disorder: Lambert-Eaton syndrome, myasthenia gravis, or neuromuscular hyper-excitability