Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.

doi:10.1093/brain/awu272

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Article

Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.

Brain : a journal of neurology - 1 Dec 2014

Böhm Johann, Biancalana Valérie, Malfatti Edoardo, Dondaine Nicolas, Koch Catherine, Vasli Nasim, Kress Wolfram, Strittmatter Matthias, Taratuto Ana Lia, Gonorazky Hernan, Laforêt Pascal, Maisonobe Thierry, Olivé Montse, Gonzalez-Mera Laura, Fardeau Michel, Carrière Nathalie, Clavelou Pierre, Eymard Bruno, Bitoun Marc, Rendu John, Fauré Julien, Weis Joachim, Mandel Jean-Louis, Romero Norma B, Laporte Jocelyn

Abstract excerpt

Centronuclear myopathies are congenital muscle disorders characterized by type I myofibre predominance and an increased number of muscle fibres with nuclear centralization. The severe neonatal X-linked form is due to mutations in MTM1, autosomal recessive centronuclear myopathy with neonatal or childhood onset results from mutations in BIN1 (amphiphysin 2), and dominant cases were previously associated to...

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Identifiers

PMID: 25260562
DOI: 10.1093/brain/awu272

Genes

BIN1
DNM2
MTM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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