| Description |
Neurodevelopmental disorder with central and peripheral motor dysfunction (NEDCPMD) is an autosomal recessive neurodevelopmental disorder characterized by variable degrees of central and peripheral involvement. Biallelic mutations in the NFASC gene have been reported to cause NEDCPMD, often disrupting the formation of paranodal axoglial junctions at nodes of Ranvier and leading to impaired myelination. NFASC encodes neurofascin, a cell adhesion molecule of the immunoglobulin superfamily. Its alternative isoforms include Nfasc186, Nfasc140, and Nfasc155.
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| Authors |
Efthymiou S, Salpietro V, Malintan N, Poncelet M, Kriouile Y, Fortuna S, De Zorzi R, Payne K, Henderson LB, Cortese A, Maddirevula S, Alhashmi N, Wiethoff S, Ryten M, Botia JA, Provitera V, Schuelke M, Vandrovcova J, Walsh L, Torti E, Iodice V, Najafi M, Karimiani EG, Maroofian R, Siquier-Pernet K, Boddaert N, De Lonlay P, Cantagrel V, Aguennouz M, El Khorassani M, Schmidts M, Alkuraya FS, Edvardson S, Nolano M, Devaux J, Houlden H |
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| Authors |
Monfrini E, Straniero L, Bonato S, Monzio Compagnoni G, Bordoni A, Dilena R, Rinchetti P, Silipigni R, Ronchi D, Corti S, Comi GP, Bresolin N, Duga S, Di Fonzo A |
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