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Article

Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies.

Acta neuropathologica - 1 Feb 2011

Toussaint Anne, Cowling Belinda Simone, Hnia Karim, Mohr Michel, Oldfors Anders, Schwab Yannick, Yis Uluc, Maisonobe Thierry, Stojkovic Tanya, Wallgren-Pettersson Carina, Laugel Vincent, Echaniz-Laguna Andoni, Mandel Jean-Louis, Nishino Ichizo, Laporte Jocelyn

Abstract excerpt

Myotubular myopathy and centronuclear myopathies (CNM) are congenital myopathies characterized by generalized muscle weakness and mislocalization of muscle fiber nuclei. Genetically distinct forms exist, and mutations in BIN1 were recently identified in autosomal recessive cases (ARCNM). Amphiphy...

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Share to Adaptor Proteins, Signal Transducing
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Muscle, Skeletal

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Source

Identifiers

PMID: 20927630
DOI: 10.1007/s00401-010-0754-2

Genes

BIN1
DNM2
MTM1
RYR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20927630-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies.PMID 20927630Read ↗

Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.Semantic proximity Read ↗

Mice with muscle-specific deletion of Bin1 recapitulate centronuclear myopathy and acute downregulation of dynamin 2 improves their phenotypes.Semantic proximity Read ↗

Amphiphysin-2 (BIN1) functions and defects in cardiac and skeletal muscle.Semantic proximity Read ↗

Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy.Semantic proximity Read ↗

Defective membrane remodeling in neuromuscular diseases: insights from animal models.Semantic proximity Read ↗

Centronuclear Myopathy Caused by Defective Membrane Remodelling of Dynamin 2 and BIN1 Variants.Semantic proximity Read ↗

MTM1 overexpression prevents and reverts BIN1-related centronuclear myopathy.Semantic proximity Read ↗

Structural insights into the centronuclear myopathy-associated functions of BIN1 and dynamin 2.Semantic proximity Read ↗

Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutationSemantic proximity Read ↗

Centronuclear (myotubular) myopathySemantic proximity Read ↗

Tamoxifen improves muscle structure and function of Bin1- and Dnm2-related centronuclear myopathies.Semantic proximity Read ↗

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