Article
Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis.
American journal of human genetics - 6 Oct 2016
Maluenda Jérôme, Manso Constance, Quevarec Loic, Vivanti Alexandre, Marguet Florent, Gonzales Marie, Guimiot Fabien, Petit Florence, Toutain Annick, Whalen Sandra, Grigorescu Romulus, Coeslier Anne Dieux, Gut Marta, Gut Ivo, Laquerrière Annie, Devaux Jérôme, Melki Judith
Abstract excerpt
Arthrogryposis multiplex congenita (AMC) is a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. Through linkage analysis, homozygosity mapping, and exome sequencing in four unrelated families affected by lethal AMC, we identified biallelic mutations in GLDN in the affected individuals. GLDN encodes gliomedin, a secreted cell adhesion molecule...
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