Evidence for linkage of the central core disease locus to the proximal long arm of human chromosome 19.
Central core disease of muscle (CCD; MIM 117000) is a rare inheritable myopathy that is frequently found in association with susceptibility to malignant hyperthermia (MHS). This observation has prompted us to perform a linkage study in CCD families using various chromosome 19q probes that are linked to the MHS locus and map close to the ryanodine receptor gene (RYR1), a strong MHS candidate gene. Our genetic linkage data support a location of the CCD gene on proximal 19q13.1 and thus suggest that CCD and MHS may be allelic.
Kausch
K
K
Department of Human Genetics, University of Würzburg, Federal Republic of Germany.
Lehmann-Horn
F
F
Janka
M
M
Wieringa
B
B
Grimm
T
T
Müller
C R
CR
D000483:Alleles; D002874:Chromosome Mapping; D002888:Chromosomes, Human, Pair 19; D015342:DNA Probes; D005796:Genes; D005819:Genetic Markers; D006801:Humans; D008126:Lod Score; D008305:Malignant Hyperthermia / Q000235:genetics*; D009135:Muscular Diseases / Q000235:genetics*; D011950:Receptors, Cholinergic / Q000235:genetics; D019837:Ryanodine Receptor Calcium Release Channel
D015342:DNA Probes; D005819:Genetic Markers; D011950:Receptors, Cholinergic; D019837:Ryanodine Receptor Calcium Release Channel