Central Core Disease: A Myofibrillary and Mitochondrial Abnormality of Muscle
Authors: G. MILTON SHY
Journal: Annals of Internal Medicine (1962)

Clinical Staff Conference1 March 1962Central Core Disease: A Myofibrillary and Mitochondrial Abnormality of MuscleCombined Clinical Staff Conference of the National Institutes of HealthG. MILTON SHY, M.D., W. KING ENGEL, M.D., THEODOR WANKO, M.D.G. MILTON SHY, M.D., W. KING ENGEL, M.D., THEODOR WANKO, M.D.Author, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-56-3-511 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptDr. G. Milton Shy: We should like to take this opportunity to present what appears to be a new disease of muscle. This disorder was first described from these Institutes in 1956 (1). At that time a small child was admitted to the National Institute of Neurological Diseases and Blindness. On admission he was two-and-one-half years of age and is represented on the genealogical chart shown in Figure 1. This child's history was as follows:He was the product of a normal delivery. However, for three months prior to delivery, the mother had noted a decreased number of fetal movements....References1. SHYMAGEE GMKR: A new congenital non-progressive myopathy. Brain 79: 610, 1956. CrossrefMedlineGoogle Scholar2. ENGELFOSTERHUGHESHUXLEYMAHLER WKJBBPHER: Central core disease—an investigation of a rare muscle cell abnormality. Brain 84: 167, 1961. CrossrefMedlineGoogle Scholar3. DUBOWITZPEARSE VAG: Oxidative enzymes and phosphorylase in central core disease of muscle. Lancet 2: 23, 1960. CrossrefMedlineGoogle Scholar4. SEITELBERGERWANKOGAVIN FTMA: The muscle fiber in central core disease. Acta Neuropath. 1: 223, 1961. CrossrefGoogle Scholar5. BETHLEMPOSTHUMUS MEYJES JFE: Congenital, non-progressive central core disease of Shy and Magee. Psychiat. Neurol. Neurochir. 63: 246, 1960. Google Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAuthors: G. MILTON SHY, M.D.; W. KING ENGEL, M.D.; THEODOR WANKO, M.D.Affiliations: Bethesda, MarylandThis is an edited transcription of a combined clinical staff conference at the Clinical Center, Bethesda, Maryland, by the National Institute of Neurological Diseases and Blindness, National Institutes of Health, Public Health Service, Department of Health, Education, and Welfare.Requests for reprints should be addressed to G. Milton Shy, M.D., National Institute of Neurological Diseases and Blindness, Bethesda 14, Maryland. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited byThe essentiality of histo- and cytochemical studies of skeletal muscle in the investigation of neuromuscular diseaseCongenital hypotonia revisitedA possible role for electron microscopy in detection of carriers of Duchenne type muscular dystrophyThe myopathic variety of arthrogryposis multiplex congenita: A disorder with autosomal recessive inheritanceThe myopathology of the Prune Belly SyndromeMETABOLIC NEUROPATHIES AND MYOPATHIES IN INFANCY AND CHILDHOODPathology of muscular hypotonia in the Prader-Willi syndromeMyotubular myopathyUltrastructure of muscle in polymyositisLyse und Regeneration von Fibrillen in der normalen menschlichen SkeletmuskulaturGenetics in Neuromuscular DiseasesHuman Myopathy with Giant Abnormal MitochondriaRare Myopathies*Medical genetics 1962 1 March 1962Volume 56, Issue 3Page: 511-521KeywordsBlindnessChartsMedical servicesMusclesPrevention, policy, and public health ePublished: 1 December 2008 Issue Published: 1 March 1962 PDF downloadLoading ...