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Article

MTM1 overexpression prevents and reverts BIN1-related centronuclear myopathy.

Brain : a journal of neurology - 3 Oct 2023

Giraud Quentin, Spiegelhalter Coralie, Messaddeq Nadia, Laporte Jocelyn

Abstract excerpt

Centronuclear and myotubular myopathies (CNM) are rare and severe genetic diseases associated with muscle weakness and atrophy as well as intracellular disorganization of myofibres. The main mutated proteins control lipid and membrane dynamics and are the lipid phosphatase myotubularin (MTM1), and the membrane remodelling proteins amphiphysin 2 (BIN1) and dynamin 2 (DNM2). There is no available therapy. Here, to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37490306
DOI: 10.1093/brain/awad251
PMCID: PMC10545525

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MTM1 overexpression prevents and reverts BIN1-related centronuclear myopathy.PMID 37490306Read ↗

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