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Article

Characterizing the molecular etiology of arthrogryposis multiplex congenita in patients with LGI4 mutations.

Glia - 1 Nov 2021

Booth Daniel G, Kozar Nina, Bradley Stephen, Meijer Dies

Abstract excerpt

Disruption of axon-glia interactions in the peripheral nervous system has emerged as a major cause of arthrogryposis multiplex congenita (AMC), a condition characterized by multiple congenital postural abnormalities involving the major joints. Several genes crucially important to the biology of Schwann cells have now been implicated with AMC. One such gene is LGI4 which encodes a secreted glycoprotein. LGI4 is...

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PMID: 34288120
DOI: 10.1002/glia.24061

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