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2007, Volume 23, Number 1, Page(s) 048-051     
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Central core disease: A case report
Bülent KURT1, Ümit Hıdır ULAŞ2, Ayhan ÖZCAN1, Zeki ODABAŞI2
1GATA Patoloji Anabilim Dalı, ANKARA
2GATA Nöroloji Anabilim Dalı, ANKARA
Keywords: Central core disease, NADH-TR, SDH

Central core disease is a member of congenital myopathies and a rare neuromuscular disease. Twenty-one year old male has applied with weakness to Gulhane Military Medical Academy, Department of Neurology. Physical examination, electrophysiological observation and laboratory findings are interpreted as myopathy and muscle biopsy has been made. In slides with stained modified Gomory Tricrome and Nicotinamide Adenine Dinucleotide Tetrazolium Redutase, centrally localized, ring shaped areas in muscle fibres have been seen. The patient has been diagnosed as central core disease. It is known that patient with central core disease prone to malignant hyperthermia. Diagnosis of central core disease is required special muscle laboratory equipment. Diagnosis is important because malign hyperthermia may be fatal.

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