MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.

doi:10.1093/brain/awx138

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Article

MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability.

Brain : a journal of neurology - 1 Aug 2017

Ylikallio Emil, Woldegebriel Rosa, Tumiati Manuela, Isohanni Pirjo, Ryan Monique M, Stark Zornitza, Walsh Maie, Sawyer Sarah L, Bell Katrina M, Oshlack Alicia, Lockhart Paul J, Shcherbii Mariia, Estrada-Cuzcano Alejandro, Atkinson Derek, Hartley Taila, Tetreault Martine, Cuppen Inge, van der Pol W Ludo, Candayan Ayse, Battaloglu Esra, Parman Yesim, van Gassen Koen L I, van den Boogaard Marie-José H, Boycott Kym M, Kauppi Liisa, Jordanova Albena, Lönnqvist Tuula, Tyynismaa Henna

Abstract excerpt

Defects in mRNA export from the nucleus have been linked to various neurodegenerative disorders. We report mutations in the gene MCM3AP, encoding the germinal center associated nuclear protein (GANP), in nine affected individuals from five unrelated families. The variants were associated with severe childhood onset primarily axonal (four families) or demyelinating (one family) Charcot-Marie-Tooth neuropathy. Mild...

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PMID: 28633435
DOI: 10.1093/brain/awx138

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

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