ArticleNeuromuscular disorders : NMD2013
Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohort.
Article in Neuromuscular disorders : NMD, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 62 citations in OpenAlex.
- Genetic and Pharmacologic Inhibition of Myostatin Restores Muscle Mass in a Dynamin 2-Related Centronuclear Myopathy Mouse Model.Journal of cachexia, sarcopenia and muscle · 2026Article
- A novelFrontiers in genetics · 2025Article
- Phenotype-Genotype Correlation of a Cohort of Patients with Congenital Myopathy: A Single Centre Experience from India.Journal of neuromuscular diseases · 2024Article
- The sulfonadyns: a class of aryl sulfonamides inhibiting dynamin I GTPase and clathrin mediated endocytosis are anti-seizure in animal models.RSC medicinal chemistry · 2023Article
- Phenotypic Spectrum ofNeurology. Genetics · 2022Article
- Benefits of therapy by dynamin-2-mutant-specific silencing are maintained with time in a mouse model of dominant centronuclear myopathy.Molecular therapy. Nucleic acids · 2022Article
- Clinical, genetic, and histological features of centronuclear myopathy in the Netherlands.Clinical genetics · 2021Article
- Panorama of the distal myopathies.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2020Review
- Update on Congenital Myopathies in Adulthood.International journal of molecular sciences · 2020Review
- Article
- Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity.European radiology · 2018Article
- Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy.Acta neuropathologica communications · 2018Article
- The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies.Frontiers in neurology · 2018Article
- Muscle MRI in pediatrics: clinical, pathological and genetic correlation.Pediatric radiology · 2017Review
- Structural insights into the centronuclear myopathy-associated functions of BIN1 and dynamin 2.Journal of structural biology · 2016Review
- DNM2 mutations in Chinese Han patients with centronuclear myopathy.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2016Article
- Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.Journal of neurology · 2015Article
- Clinical, pathological, and genetic features of dynamin-2-related centronuclear myopathy in China.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2015Article
- Article
- Respiratory assessment in centronuclear myopathies.Muscle & nerve · 2014Review
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Authors and funding
19 authors at 7 institutions in 1 country.
Funding
Abstract
Mutations in dynamin 2 (DNM2) gene cause autosomal dominant centronuclear myopathy and occur in around 50% of patients with centronuclear myopathy. We report clinical, morphological, muscle imaging and genetic data of 10 unrelated Italian patients with centronuclear myopathy related to DNM2 mutations. Our results confirm the clinical heterogeneity of this disease, underlining some peculiar clinical features, such as severe pulmonary impairment and jaw contracture that should be considered in the clinical follow-up of these patients. Muscle MRI showed a distinct pattern of involvement, with predominant involvement of soleus and tibialis anterior in the lower leg muscles, followed by hamstring muscles and adductor magnus at thigh level and gluteus maximus. The detection of three novel DNM2 mutations and the first case of somatic mosaicism further expand the genetic spectrum of the disease.
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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.