Deficiency of emerin contributes differently to the pathogenesis of skeletal and cardiac muscles in LmnaH222P/H222P mutant mice

• Published in: PloS one Vol. 14; no. 8; p. e0221512
• Main Authors: Wada, Eiji, Kato, Megumi, Yamashita, Kaori, Kokuba, Hiroko, Liang, Wen-Chen, Bonne, Gisèle, Hayashi, Yukiko K.
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 20.08.2019; Public Library of Science (PLoS)
• Subjects: Abnormalities; Age; Aging - pathology; Animal models; Animal tissues; Animals; Biology and Life Sciences; Breeding; Cardiac muscle; Cardiomyopathy; Cardiotoxins; Cell cycle; Cell Nucleus - pathology; Cell Nucleus - ultrastructure; Cells (biology); Cellular Biology; Dystrophy; Emery-Dreifuss muscular dystrophy; Fibrosis; Gene expression; Genes; Genetics; Kinases; Lamin Type A - genetics; Life Sciences; Medicine and Health Sciences; Membrane Proteins - deficiency; Membrane Proteins - metabolism; Mice; Mice, Inbred C57BL; Mice, Mutant Strains; Muscle, Skeletal - pathology; Muscle, Skeletal - physiopathology; Muscle, Skeletal - ultrastructure; Muscles; Muscular dystrophy; Musculoskeletal system; Mutation; Myocardium - pathology; Myocardium - ultrastructure; Myopathy; Nuclear membranes; Nuclear Proteins - deficiency; Nuclear Proteins - metabolism; Pathogenesis; Pathology; Pediatrics; Phenotype; Phenotypes; Proteins; Regeneration; Research and Analysis Methods; Satellite cells; Signal transduction; Skeletal muscle; Japan; Taiwan

Laminopathies are tissue-selective diseases that affect differently in organ systems. Mutations in nuclear envelopes, emerin (Emd) and lamin A/C (Lmna) genes, cause clinically indistinguishable myopathy called Emery-Dreifuss muscular dystrophy (EDMD) and limb-girdle muscular dystrophy. Several murin...