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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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    1. Profibrotic Molecules Are Reduced in CRISPR-Edited Emery–Dreifuss Muscular Dystrophy Fibroblasts Cells · 2025
    2. From structural resilience to cell specification — Intermediate filaments as regulators of cell fate ˜The œFASEB journal · 2020 · 9 citations
    3. Beyond Expectations International review of cell and molecular biology · 2014 · 70 citations
    4. Integration of Biochemical and Mechanical Signals at the Nuclear Periphery: Impacts on Skin Development and Disease Stem cell biology and regenerative medicine · 2018
    5. How to diagnose a lipodystrophy syndrome Annales d'Endocrinologie · 2012 · 53 citations
    6. Syndromes of Severe Insulin Resistance (SSIRs) 2004
    7. Hutchinson-Gilford Progeria Syndrome—Current Status and Prospects for Gene Therapy Treatment Cells · 2019 · 39 citations
    8. A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report Revista Paulista de Pediatria · 2024 · 2 citations
    9. Targeted transgenic expression of the mutation causing Hutchinson-Gilford progeria syndrome leads to proliferative and degenerative epidermal disease Journal of Cell Science · 2008 · 85 citations
    10. Epidermal expression of the truncated prelamin A causing Hutchinson-Gilford progeria syndrome: effects on keratinocytes, hair and skin Human Molecular Genetics · 2008 · 48 citations
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