Fig. 1: A schematic depiction of the main molecular activities of known Congenital Myasthenic Syndromes (CMS) causal genes (Methods) taking place at the neuromuscular junction (NMJ) in the presynaptic terminal (in blue), synaptic cleft (in white), and skeletal muscle fiber (in red) (for a detailed description of this system see Supplementary Information, Functions of CMS-associated genes in the neuromuscular junction). | Nature Communications

Fig. 1: A schematic depiction of the main molecular activities of known Congenital Myasthenic Syndromes (CMS) causal genes (Methods) taking place at the neuromuscular junction (NMJ) in the presynaptic terminal (in blue), synaptic cleft (in white), and skeletal muscle fiber (in red) (for a detailed description of this system see Supplementary Information, Functions of CMS-associated genes in the neuromuscular junction).

From: Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes

Fig. 1

ChAT Choline O-Acetyltransferase, LRP4 LDL Receptor Related Protein 4, AChR Acetylcholine Receptor, MuSK Muscle Associated Receptor Tyrosine Kinase, Na(V) 1.4 Nav1.4 voltage-gated sodium channel.

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