| 概要 |
Arthrogryposis multiplex congenita, neurogenic, with myelin defect (AMCNMY) is caused by loss-of-function mutations in LGI4. LGI4 is a ligand secreted by Schwann cells that regulates peripheral nerve myelination via its cognate receptor ADAM22 expressed by neurons. The phenotypic spectrum of LGI4-related AMC varies from a most severe form with intrauterine onset resulting in utero death or termination to neonatal death to milder form with distal arthrogryposis, areflexia, developmental delay, and other variable features.
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| 著者 |
Xue S, Maluenda J, Marguet F, Shboul M, Quevarec L, Bonnard C, Ng AY, Tohari S, Tan TT, Kong MK, Monaghan KG, Cho MT, Siskind CE, Sampson JB, Rocha CT, Alkazaleh F, Gonzales M, Rigonnot L, Whalen S, Gut M, Gut I, Bucourt M, Venkatesh B, Laquerriere A, Reversade B, Melki J |
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