RT Book, Section A1 Amato, Anthony A. A1 Russell, James A. SR Print(0) ID 1115661400 T1 Congenital Myopathies T2 Neuromuscular Disorders, 2e YR 2015 FD 2015 PB McGraw-Hill Education PP New York, NY SN 9780071752503 LK neurology.mhmedical.com/content.aspx?aid=1115661400 RD 2024/10/11 AB The term “congenital myopathy” was originally used to describe a group of myopathic disorders presenting preferentially, but not exclusively, at birth and being morphologically distinct from congenital muscular dystrophies (Table 28-1).1–3 However, disorders that were once considered forms of muscular dystrophy are now known to be allelic to some types of congenital myopathy. For example, congenital muscular dystrophy with rigid spine syndrome, multi/minicore, and some cases of myofibrillar myopathy are caused by selenoprotein N1 mutations; sarcotubular myopathy and limb-girdle muscular dystrophy 2H (LGMD2H) are due to mutations in TRIM32; reducing body myopathy is now considered a type of LGMD. In addition, some disorders caused by mutations in sarcomeric proteins are classified as forms of LGMD (e.g., titinopathies, myotilinopathies, ZASPopathies), while others (e.g., actinomyosin, tropomyosin, α-actin, and troponin) are forms of congenital myopathy (nemaline myopathy). Thus, the nosology of what distinguishes a “congenital myopathy” from a “muscular dystrophy” on clinical and histopathologic grounds is not at all clear.