title: Adult central core disease. Clinical, histologic and genetic aspects: case report and review of the literature.
abstract: Central core disease (CCD) is mainly a disease of infancy and childhood and represents a member of a group of muscular disorders known as "congenital, benign (non-progressive) myopathies". It is an uncommon disease of infancy and early childhood, and presentation is rare in adulthood. The disease is mainly familial with an autosomal-dominant pattern of inheritance, yet sporadic cases can occur. The diagnosis is based on a muscle biopsy, which documents unique morphological abnormalities of focal loss of oxidative enzyme in type I muscular fibers. The basis for this loss of such activities is represented by a near-total absence of mitochondria and sarcoplasmic reticulum in the cores. We describe a 58-year-old man diagnosed with CCD, who is one of the oldest individuals reported with CCD diagnosed by a muscle biopsy. The clinical, pathological and genetic features of this rare entity are discussed herein.
authors.affiliation: Department of Pathology and Laboratory Medicine, University of Louisville Health Sciences Center, Louisville, KY 40202, USA.
authors.forename: S S
authors.initials: SS
authors.lastname: Talwalkar
authors.forename: J R
authors.initials: JR
authors.lastname: Parker
authors.forename: R R
authors.initials: RR
authors.lastname: Heffner
authors.forename: J C
authors.initials: JC
authors.lastname: Parker
mesh_terms: D000251:Adenosine Triphosphatases / Q000378:metabolism; D017668:Age of Onset; D003576:Electron Transport Complex IV / Q000378:metabolism; D006801:Humans; D008297:Male; D008875:Middle Aged; D018485:Muscle Fibers, Skeletal / Q000201:enzymology / Q000473:pathology* / Q000648:ultrastructure; D018482:Muscle, Skeletal / Q000201:enzymology / Q000473:pathology* / Q000648:ultrastructure; D020512:Myopathy, Central Core / Q000235:genetics / Q000473:pathology*; D009243:NAD / Q000378:metabolism; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics; D013385:Succinate Dehydrogenase / Q000378:metabolism
chemical_list: D019837:Ryanodine Receptor Calcium Release Channel; D009243:NAD; D013385:Succinate Dehydrogenase; D003576:Electron Transport Complex IV; D000251:Adenosine Triphosphatases