Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
MUSK Muscle, skeletal, receptor tyrosine kinase       | 9q31.3-q32 | * Fetal akinesia deformation sequance with MUSK defect - FADS1 (11.17, 16.27)* Congenital myasthenic syndrome related to MuSK - CMS1B (11.17, 16.27)* Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency - CMS9 (11.17, 16.27) |