ReviewOrphanet journal of rare diseases2010
Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation.
Review in Orphanet journal of rare diseases, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 64 citations in OpenAlex.
- Bend it like BIN1: how a membrane-curving adaptor protein shapes cardiac physiology.American journal of physiology. Heart and circulatory physiology · 2025Review
- GSK3α phosphorylates dynamin-2 to promote GLUT4 endocytosis in muscle cells.The Journal of cell biology · 2023Article
- Centronuclear Myopathy Caused by Defective Membrane Remodelling of Dynamin 2 and BIN1 Variants.International journal of molecular sciences · 2022Review
- Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands.Clinical genetics · 2021Article
- Common Pathogenic Mechanisms in Centronuclear and Myotubular Myopathies and Latest Treatment Advances.International journal of molecular sciences · 2021Review
- Clinical and genetic analysis of a case with centronuclear myopathy caused by SPEG gene mutation: a case report and literature review.BMC pediatrics · 2021Review
- RDmap: a map for exploring rare diseases.Orphanet journal of rare diseases · 2021Article
- Differential physiological roles for BIN1 isoforms in skeletal muscle development, function and regeneration.Disease models & mechanisms · 2020Article
- A Roma founderNeurology · 2018Article
- Centronuclear myopathies under attack: A plethora of therapeutic targets.Journal of neuromuscular diseases · 2018Review
- Cardiac T-Tubule Microanatomy and Function.Physiological reviews · 2017Review
- Structural insights into the centronuclear myopathy-associated functions of BIN1 and dynamin 2.Journal of structural biology · 2016Review
- Mouse myofibers lacking the SMYD1 methyltransferase are susceptible to atrophy, internalization of nuclei and myofibrillar disarray.Disease models & mechanisms · 2016Article
- Dependence of cardiac transverse tubules on the BAR domain protein amphiphysin II (BIN-1).Circulation research · 2014Article
- BIN1 membrane curvature sensing and generation show autoinhibition regulated by downstream ligands and PI(4,5)P2.Biochemistry · 2014Article
- Respiratory assessment in centronuclear myopathies.Muscle & nerve · 2014Review
- Bridging integrator 1 (Bin1) deficiency in zebrafish results in centronuclear myopathy.Human molecular genetics · 2014Article
- Cardiac BIN1 folds T-tubule membrane, controlling ion flux and limiting arrhythmia.Nature medicine · 2014Article
- Amphiphysin 2 (BIN1) in physiology and diseases.Journal of molecular medicine (Berlin, Germany) · 2014Review
- Approach to the diagnosis of congenital myopathies.Neuromuscular disorders : NMD · 2014Article
Corrections and comments
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Authors and funding
7 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Centronuclear myopathies (CNM) describe a group of rare muscle diseases typically presenting an abnormal positioning of nuclei in muscle fibers. To date, three genes are known to be associated to a classical CNM phenotype. The X-linked neonatal form (XLCNM) is due to mutations in MTM1 and involves a severe and generalized muscle weakness at birth. The autosomal dominant form results from DNM2 mutations and has been described with early childhood and adult onset (ADCNM). Autosomal recessive centronuclear myopathy (ARCNM) is less characterized and has recently been associated to mutations in BIN1, encoding amphiphysin 2. Here we present the first clinical description of intrafamilal variability in two first-degree cousins with a novel BIN1 stop mutation. In addition to skeletal muscle defects, both patients have mild mental retardation and the more severely affected male also displays abnormal ventilation and cardiac arrhythmia, thus expanding the phenotypic spectrum of BIN1-related CNM to non skeletal muscle defects. We provide an up-to-date review of all previous cases with ARCNM and BIN1 mutations.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.