ArticleNeuromuscular disorders : NMD2015
Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery-Dreifuss muscular dystrophy.
Article in Neuromuscular disorders : NMD, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 20 citations in OpenAlex.
- Emery-Dreifuss muscular dystrophy Type 1 is associated with a high risk of malignant ventricular arrhythmias and end-stage heart failure.European heart journal · 2023Article
- Metabolic, fibrotic and splicing pathways are all altered in Emery-Dreifuss muscular dystrophy spectrum patients to differing degrees.Human molecular genetics · 2023Article
- Impaired Regeneration in Dystrophic Muscle-New Target for Therapy.Frontiers in molecular neuroscience · 2020Article
- Targeted next-generation sequencing identified a knownHuman genome variation · 2019Article
- A novel EMD mutation in a Chinese family with initial diagnosis of conduction cardiomyopathy.Brain and behavior · 2019Article
- A Novel Mutation Of ThePharmacogenomics and personalized medicine · 2019Article
- Elevated TGF β2 serum levels in Emery-Dreifuss Muscular Dystrophy: Implications for myocyte and tenocyte differentiation and fibrogenic processes.Nucleus (Austin, Tex.) · 2018Article
- Mechanotransduction, nuclear architecture and epigenetics in Emery Dreifuss Muscular Dystrophy: tous pour un, un pour tous.Nucleus (Austin, Tex.) · 2018Review
- Clinical aspects of Emery-Dreifuss muscular dystrophy.Nucleus (Austin, Tex.) · 2018Review
- Nuclear envelopathies: a complex LINC between nuclear envelope and pathology.Orphanet journal of rare diseases · 2017Review
- Systematic screening of isogenic cancer cells identifies DUSP6 as context-specific synthetic lethal target in melanoma.Oncotarget · 2017Article
- Immunohistochemistry on a panel of Emery-Dreifuss muscular dystrophy samples reveals nuclear envelope proteins as inconsistent markers for pathology.Neuromuscular disorders : NMD · 2017Article
- Semaphorin 3A promotes activation of Pax7, Myf5, and MyoD through inhibition of emerin expression in activated satellite cells.FEBS open bio · 2016Article
- A muscle stem cell for every muscle: variability of satellite cell biology among different muscle groups.Frontiers in aging neuroscience · 2015Review
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10 authors at 4 institutions in 2 countries.
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Abstract
Emery-Dreifuss muscular dystrophy (EDMD) is a neuromuscular disease characterized by early contractures, slowly progressive muscular weakness and life-threatening cardiac arrhythmia that can develop into cardiomyopathy. In X-linked EDMD (EDMD1), female carriers are usually unaffected. Here we present a clinical description and in vitro characterization of a mildly affected EDMD1 female carrying the heterozygous EMD mutation c.174_175delTT; p.Y59* that yields loss of protein. Muscle tissue sections and cultured patient myoblasts exhibited a mixed population of emerin-positive and -negative cells; thus uneven X-inactivation was excluded as causative. Patient blood cells were predominantly emerin-positive, but considerable nuclear lobulation was observed in non-granulocyte cells - a novel phenotype in EDMD. Both emerin-positive and emerin-negative myoblasts exhibited spontaneous differentiation in tissue culture, though emerin-negative myoblasts were more proliferative than emerin-positive cells. The preferential proliferation of emerin-negative myoblasts together with the high rate of spontaneous differentiation in both populations suggests that loss of functional satellite cells might be one underlying mechanism for disease pathology. This could also account for the slowly developing muscle phenotype.
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