1043-3155 Pediatr Neurol Briefs pedneurbriefs Pediatr Neurol Briefs Pediatric Neurology Briefs Pediatr Neurol Briefs 2166-6482 1043-3155 2166-3155 Pediatric Neurology Briefs Publishers Chicago, IL, USA PNB-14-26-a 10.15844/pedneurbriefs-14-4-2 Neuromuscular Disorders Neurology Pediatrics Nervous System Diseases Child Development Brain Diseases Neurosurgery Child Infant Congenital Myopathy with Apoptotic Changes http://orcid.org/0000-0002-0173-7931 Millichap J. Gordon MD 1 2 * Division of Neurology, Children's Memorial Hospital, Chicago, IL Departments of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL Correspondence: Dr. J. Gordon Millichap, E-mail: jgmillichap@northwestern.edu 04 2000 01 04 2016 14 4 26 26 Copyright: © 2000 The Author(s) 2000 This work is licensed under the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. A novel congenital myopathy with apoptotic changes

A case of congenital myopathy with myonuclear changes consistent with apoptotic degeneration in a 4-year-old girl is reported from the National Institute of Neuroscience, Tokyo, Japan.

 Congenital Myopathy Hypotonic Central Core Disease

A case of congenital myopathy with myonuclear changes consistent with apoptotic degeneration in a 4-year-old girl is reported from the National Institute of Neuroscience, Tokyo, Japan. She was hypotonic at birth and psychomotor development was markedly delayed. Brain MRI was normal. DNA fragmentation in myonuclei was demonstrated by the TUNEL method and supported by ultrastuctural characteristics and immunochemistry. [1]

COMMENT. The authors add a new type of structural abnormality associated with congenital myopathy. Other types include central core disease, nemaline myopathy, myotubular myopathy, and congenital fiber-type disproportion.

Ikezoe K Yan C Momoi T Imoto C Minami N Ariga M A novel congenital myopathy with apoptotic changes Ann Neurol 2000 Apr 47 4 531 536 10.1002/1531-8249(200004)47:4<531::AID-ANA21>3.0.CO;2-S 10762169