title: Multipoint mapping of the central core disease locus.
abstract: A linkage analysis with 12 DNA markers from proximal 19q was performed in eight families with central core disease (CCO). Two-point analysis gave a peak lod score of Z = 4.95 at theta = 0.00 for the anonymous marker D19S190 and of Z = 2.53 at theta = 0.00 for the ryanodine receptor (RYR1) candidate gene. Multipoint linkage data place the CCO locus at 19q13.1, flanked proximally by D19S191/D19S28 and distally by D19S47. This map location includes the RYR1 gene. The results of the linkage study present no evidence for genetic heterogeneity of CCO.
authors.affiliation: Institut für Humangenetik Universität, Würzburg, Germany.
authors.forename: S
authors.initials: S
authors.lastname: Schwemmle
authors.forename: K
authors.initials: K
authors.lastname: Wolff
authors.forename: L M
authors.initials: LM
authors.lastname: Palmucci
authors.forename: T
authors.initials: T
authors.lastname: Grimm
authors.forename: F
authors.initials: F
authors.lastname: Lehmann-Horn
authors.forename: C
authors.initials: C
authors.lastname: Hübner
authors.forename: E
authors.initials: E
authors.lastname: Hauser
authors.forename: D E
authors.initials: DE
authors.lastname: Iles
authors.forename: D H
authors.initials: DH
authors.lastname: MacLennan
authors.forename: C R
authors.initials: CR
authors.lastname: Müller
mesh_terms: D000818:Animals; D015220:Calcium Channels / Q000235:genetics*; D002874:Chromosome Mapping; D002888:Chromosomes, Human, Pair 19; D004195:Disease Models, Animal; D005260:Female; D005819:Genetic Markers; D006801:Humans; D008126:Lod Score; D008297:Male; D008305:Malignant Hyperthermia / Q000235:genetics* / Q000662:veterinary; D009124:Muscle Proteins / Q000235:genetics*; D009135:Muscular Diseases / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D019837:Ryanodine Receptor Calcium Release Channel; D013045:Species Specificity; D013552:Swine / Q000235:genetics; D013553:Swine Diseases / Q000235:genetics
chemical_list: D015220:Calcium Channels; D005819:Genetic Markers; D009124:Muscle Proteins; D019837:Ryanodine Receptor Calcium Release Channel