Gene table: search width pubmed_id = 15496425


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Disease phenotype
Item
in
this
table
Key
references
Gene symbol (chromosome)

protein
All allelic disease phenotypes - locus/disease symbols
Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency - (AR)
11.17
15496425
MUSK (9q31.3-q32)
Muscle, skeletal, receptor tyrosine kinase
* Congenital myasthenic syndrome related to MuSK - CMS1B
* Fetal akinesia deformation sequance with MUSK defect - FADS1
* Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency - CMS9