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.
Publication types
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Comparative Study
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Research Support, Non-U.S. Gov't
MeSH terms
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Animals
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Calcium Channels / genetics*
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Chromosome Mapping
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Chromosomes, Human, Pair 19*
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Disease Models, Animal
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Female
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Genetic Markers
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Humans
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Lod Score
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Male
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Malignant Hyperthermia / genetics*
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Malignant Hyperthermia / veterinary
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Muscle Proteins / genetics*
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Muscular Diseases / genetics*
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Muscular Diseases / pathology
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Pedigree
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Ryanodine Receptor Calcium Release Channel
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Species Specificity
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Swine / genetics
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Swine Diseases / genetics
Substances
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Calcium Channels
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Genetic Markers
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Muscle Proteins
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Ryanodine Receptor Calcium Release Channel