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Article

Dynamin 2 mutations in Charcot-Marie-Tooth neuropathy highlight the importance of clathrin-mediated endocytosis in myelination.

Brain : a journal of neurology - 1 May 2012

Sidiropoulos Páris N M, Miehe Michaela, Bock Thomas, Tinelli Elisa, Oertli Carole I, Kuner Rohini, Meijer Dies, Wollscheid Bernd, Niemann Axel, Suter Ueli

Abstract excerpt

Mutations in dynamin 2 (DNM2) lead to dominant intermediate Charcot-Marie-Tooth neuropathy type B, while a different set of DNM2 mutations cause autosomal dominant centronuclear myopathy. In this study, we aimed to elucidate the disease mechanisms in dominant intermediate Charcot-Marie-Tooth neuropathy type B and to find explanations for the tissue-specific defects that are associated with different DNM2...

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PMID: 22451505
DOI: 10.1093/brain/aws061

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DNM2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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