1. Rare coincidence of familial central core disease and hemophagocytic lymphohistiocytosis.
- Author
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Lee JS, Lim BC, Kim KJ, Hwang YS, Seong MW, Park SS, Park SH, and Chae JH
- Subjects
- Child, Female, Humans, Lymphohistiocytosis, Hemophagocytic therapy, Myopathy, Central Core therapy, Pedigree, Lymphohistiocytosis, Hemophagocytic diagnosis, Lymphohistiocytosis, Hemophagocytic etiology, Myopathy, Central Core diagnosis, Myopathy, Central Core etiology, Ryanodine Receptor Calcium Release Channel genetics
- Abstract
Central core disease is a congenital myopathy caused by mutations in RYR1. A 6-year-old girl was admitted due to difficulty in running and climbing stairs. Another 13 members through the four generations had similar symptoms, indicating autosomal dominant inheritance. Muscle biopsy showed the characteristic central cores in predominant type 1 fibers. She later developed hemophagocytic lymphohistiocytosis. Mutation analysis identified c.14582G>A in RYR1, and c.1693delG and c.2954 + 5G>A in UNC13D. To our knowledge, this is the first case of a patient with central core disease, carrying a RYR1 mutation in a Korean large family, who had concurrent familial hemophagocytic lymphohistiocytosis., (© 2014 Japan Pediatric Society.) more...
- Published
- 2014
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