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BACKGROUND Fetal akinesia deformation sequence (FADS) is a broad spectrum disorder with absent fetal movements as the unifying… Expand Congenital myasthenic syndrome (CMS) is a heterogeneous disorder that causes fatigable muscle weakness. CMS has been associated… Expand Muscle, skeletal, receptor tyrosine kinase (MuSK) is a key organizer at the postsynaptic membrane and critical for proper… Expand Congenital myasthenic syndromes (CMS) are rare genetic diseases, in which neuromuscular transmission is impaired. To date 17 CMS… Expand In myasthenia gravis (MG), 5-15% of patients are positive for MuSK antibodies. MuSK binds to LRP4 and transmits an agrin-mediated… Expand The familial occurrence of autoimmune myasthenia gravis
(MG) with anti-acetylcholine receptor antibodies (AChR
Ab) has been… Expand The receptor tyrosine kinase MuSK is activated by agrin, an extracellular matrix protein believed to be utilized by motoneurons… Expand Differentiation of the postsynaptic membrane at the neuromuscular junction requires agrin, a nerve-derived signal; MuSK, a… Expand MuSK is a receptor tyrosine kinase that initiates the formation of neuromuscular junctions in response to agrin. Little is known… Expand In Drosophila, members of the Frizzled family of tissue‐polarity genes encode proteins that appear to function as cell‐surface… Expand