G. MILTON SHY, M.D.; W. KING ENGEL, M.D.; THEODOR WANKO, M.D.
Dr. 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.
SHY GM, ENGEL WK, WANKO T. Central Core Disease: A Myofibrillary and Mitochondrial Abnormality of Muscle: Combined Clinical Staff Conference of the National Institutes of Health. Ann Intern Med. ;56:511–521. doi: 10.7326/0003-4819-56-3-511
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Published: Ann Intern Med. 1962;56(3):511-521.
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