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. 1991 Jul;10(3):765-9.
doi: 10.1016/0888-7543(91)90461-m.

Evidence for linkage of the central core disease locus to the proximal long arm of human chromosome 19

K Kausch  1 , F Lehmann-Horn, M Janka, B Wieringa, T Grimm, C R Müller
Affiliations

Evidence for linkage of the central core disease locus to the proximal long arm of human chromosome 19

K Kausch et al. Genomics. 1991 Jul.

Abstract

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.

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