Brain Dev 2022 Jun 18. Epub 2022 Jun 18.
Division of Neurology, National Center for Child Health and Development (NCCHD), 2-10-1 Okura, Setagaya-ku, Tokyo 157-8535, Japan; Department of Pediatrics, Shimada Ryoiku Medical Center for Challenged Children, 1-31-1 Nakazawa, Tama City, Tokyo 206-0036, Japan.
Alterations in the LMNA gene cause a wide spectrum of diseases collectively called laminopathies. LMNA-associated congenital muscular dystrophy is a form of laminopathy, which usually causes infantile onset of muscle weakness, predominantly in the cervical-axial muscles, and motor developmental retardation. Cardiac symptoms during the first decade of life are rare. Read More