Centronuclear Myopathy: Disease Entity or a Syndrome?. Light- and Electron-Microscopic Study of Two Cases and Review of the Literature
Document Type
Article
Publication Date
1-1-1972
Description
Centronuclear myopathy is a form of hereditary myopathy with onset during gestational life, early infancy or rarely in childhood. Most patients are born as floppy infants. Various skeletal muscles are involved in the disease process. Ptosis, external ophthalmoplegia as well as facial diplegia, and paresis of masticatory, deglutition and speech muscles are common findings. The muscle weakness may rarely show a tendency to improve or to remain stationary, but in most cases, slow and insidious progression occurs. A few cases show no or only minimal handicaps but most of the patients become more or less severely limited in their motor activity. Centronuclear myopathy is characterized by chains of internal nuclei in a high proportion of myofibers. Other histological features vary somewhat from case to case. Centronuclear myopathy is genetically heterogeneous and various patterns of inheritance have been observed. The various genetic types do not differ in their clinical manifestations and anatomical lesions and thus represent true genocopies.
Citation Information
Schochet, S. S.; Zellweger, H.; Ionasescu, V.; and McCormick, W. F.. 1972. Centronuclear Myopathy: Disease Entity or a Syndrome?. Light- and Electron-Microscopic Study of Two Cases and Review of the Literature. Journal of the Neurological Sciences. Vol.16(2). 215-228. https://doi.org/10.1016/0022-510X(72)90091-3 PMID: 5037445 ISSN: 0022-510X