LMNA-Cardiomyopathy in Emery-Dreifuss Muscular Dystrophy

• Autores principales: E. V. Resnik (Autor), A. A. Kovaleva (Autor), M. Kh. Shurdumova (Autor), D. E. Emelyanovich (Autor), A. P. Smirnov (Autor), V. Y. Voinova (Autor)
• Formato: Libro
• Publicado: SINAPS LLC, 2024-10-01T00:00:00Z.
• Materias: article
• Acceso en línea: Connect to this object online.

Emery-Dreifuss muscular dystrophy is a rare disease resulting from a genetic defect in nuclear envelope proteins, most commonly in emerin and lamin A/C. The disease is characterized by slowly progressing weakness of the scapular-brachial and pelvic-peroneal muscle groups, myodystrophy, primary joint...