ArticleBrain and behavior2013
Extensive morphological and immunohistochemical characterization in myotubular myopathy.
Article in Brain and behavior, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 30 citations in OpenAlex.
- Relevance of muscle biopsies in the neonatal and early infantile period: a 52 years retrospective study in the gene-sequencing era.Acta neuropathologica communications · 2024Article
- Defining and identifying satellite cell-opathies within muscular dystrophies and myopathies.Experimental cell research · 2022Article
- Common Pathogenic Mechanisms in Centronuclear and Myotubular Myopathies and Latest Treatment Advances.International journal of molecular sciences · 2021Review
- Multi-omics comparisons of different forms of centronuclear myopathies and the effects of several therapeutic strategies.Molecular therapy : the journal of the American Society of Gene Therapy · 2021Article
- Striated Preferentially Expressed Protein Kinase (SPEG)-Deficient Skeletal Muscles Display Fewer Satellite Cells with Reduced Proliferation and Delayed Differentiation.The American journal of pathology · 2020Article
- AAV-Mediated Gene Transfer Restores a Normal Muscle Transcriptome in a Canine Model of X-Linked Myotubular Myopathy.Molecular therapy : the journal of the American Society of Gene Therapy · 2020Article
- Nuclear defects in skeletal muscle from a Dynamin 2-linked centronuclear myopathy mouse model.Scientific reports · 2019Article
- Tamoxifen therapy in a murine model of myotubular myopathy.Nature communications · 2018Article
- Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy.Acta neuropathologica communications · 2018Article
- Centronuclear myopathies under attack: A plethora of therapeutic targets.Journal of neuromuscular diseases · 2018Review
- Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons.Journal of neuropathology and experimental neurology · 2016Review
- Moving and positioning the nucleus in skeletal muscle - one step at a time.Nucleus (Austin, Tex.) · 2015Review
- Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype.Acta neuropathologica communications · 2014Article
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Authors and funding
7 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The X-linked myotubular myopathy (XLMTM) also called X-linked centronuclear myopathy is a rare congenital myopathy due to mutations in the MTM 1 gene encoding myotubularin. The disease gives rise to a severe muscle weakness in males at birth. The main muscle morphological characteristics (significant number of small muscle fibers with centralized nuclei and type 1 fiber predominance) are usually documented, but the sequence of formation and maintenance of this particular morphological pattern has not been extensively characterized in humans. In this study, we perform a reevaluation of morphological changes in skeletal muscle biopsies in severe XLMTM. We correlate the pathologic features observed in the muscle biopsies of 15 newborns with MTM 1-mutations according to the "adjusted-age" at the time of muscle biopsy, focusing on sequential analysis in the early period of the life (from 34 weeks of gestation to 3 months of age). We found a similar morphological pattern throughout the period analyzed; the proportion of myofibers with central nuclei was high in all muscle biopsies, independently of the muscle type, the age of the newborns at time of biopsy and the specific MTM 1 mutation. We did not observe a period free of morphological abnormalities in human skeletal muscle as observed in myotubularin-deficient mouse models. In addition, this study demonstrated some features of delayed maturation of the muscle fibers without any increase in the number of satellite cells, associated with a marked disorganization of the muscle T-tubules and cytoskeletal network in the skeletal muscle fibers.
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