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Glossary Emery-Dreifuss muscular dystrophy

genetic disorder causing muscle weakness, joint contractures, and heart issues

Emery-Dreifuss muscular dystrophy (EDMD) is a genetic disorder characterized by progressive muscle weakness, joint contractures, and heart problems. It typically affects the skeletal muscles and the heart, leading to difficulties in movement and an increased risk of cardiac complications. EDMD can be inherited in an X-linked, autosomal dominant, or autosomal recessive manner, depending on the specific genetic mutation involved.

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research Profibrotic Molecules Are Reduced in CRISPR-Edited Emery–Dreifuss Muscular Dystrophy Fibroblasts

August 2025 in “Cells”

This study found that fibroblasts from Emery-Dreifuss muscular dystrophy patients with certain genetic mutations overexpress markers of fibrosis, and gene correction techniques reduced fibrogenic molecule expression in cell models, suggesting potential therapeutic applications.

research From structural resilience to cell specification — Intermediate filaments as regulators of cell fate

9 citations , November 2020 in “The FASEB journal”

This review discusses the role of intermediate filaments in cell signaling and differentiation, emphasizing their impact on stem cell function, development, and disease, but reports no new clinical results.

research Hutchinson-Gilford Progeria Syndrome—Current Status and Prospects for Gene Therapy Treatment

39 citations , January 2019 in “Cells”

This review discusses the molecular mechanisms of Hutchinson-Gilford progeria syndrome and evaluates current research trends, available mouse models, and prospects for developing therapies, but reports no new clinical findings.

research Beyond Expectations

70 citations , January 2014 in “International review of cell and molecular biology”

This review discusses the role of keratins in maintaining epidermal structure and function and reports no new results; the authors emphasize the lack of rational therapies for skin disorders linked to keratin mutations.

research Lamins in development, tissue maintenance and stress

64 citations , November 2012 in “EMBO reports”

This review discusses the role of lamins in development, tissue maintenance, and stress response, and does not report new experimental findings.

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