title: Rare coincidence of familial central core disease and hemophagocytic lymphohistiocytosis.
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.
authors.affiliation: Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, South Korea.
authors.forename: Jin Sook
authors.initials: JS
authors.lastname: Lee
authors.affiliation: Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, South Korea.
authors.forename: Byung Chan
authors.initials: BC
authors.lastname: Lim
authors.affiliation: Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, South Korea.
authors.forename: Ki Joong
authors.initials: KJ
authors.lastname: Kim
authors.affiliation: Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, South Korea.
authors.forename: Yong Seung
authors.initials: YS
authors.lastname: Hwang
authors.affiliation: Department of Laboratory Medicine, Seoul National University Hospital, Seoul, South Korea.
authors.forename: Moon-Woo
authors.initials: MW
authors.lastname: Seong
authors.affiliation: Department of Laboratory Medicine, Seoul National University Hospital, Seoul, South Korea.
authors.forename: Sung Sup
authors.initials: SS
authors.lastname: Park
authors.affiliation: Department of Pathology, Seoul National University Hospital, Seoul, South Korea.
authors.forename: Sung-Hye
authors.initials: SH
authors.lastname: Park
authors.affiliation: Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, South Korea.
authors.forename: Jong-Hee
authors.initials: JH
authors.lastname: Chae
mesh_terms: D002648:Child; D005260:Female; D006801:Humans; D051359:Lymphohistiocytosis, Hemophagocytic / Q000175:diagnosis* / Q000209:etiology* / Q000628:therapy; D020512:Myopathy, Central Core / Q000175:diagnosis* / Q000209:etiology* / Q000628:therapy; D010375:Pedigree; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics*
chemical_list: D019837:Ryanodine Receptor Calcium Release Channel
keywords: RYR1; UNC13D; central core disease; familial hemophagocytic lymphohistiocytosis