Deficiency of emerin contributes differently to the pathogenesis of skeletal and cardiac muscles in Lmna.sup.H222P/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: Public Library of Science 20.08.2019
• Subjects: Fibrosis; Gene mutation; Genes; Health aspects; Heart; Laboratory rats; Muscular dystrophy; Myocardial diseases; Nuclear membrane; Phenotypes; Production management; Skeletal muscle

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...