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.
journal_name
Genomicsjournal_title
Genomicsauthors
Schwemmle S,Wolff K,Palmucci LM,Grimm T,Lehmann-Horn F,Hübner C,Hauser E,Iles DE,MacLennan DH,Müller CRdoi
10.1006/geno.1993.1302subject
Has Abstractpub_date
1993-07-01 00:00:00pages
205-7issue
1eissn
0888-7543issn
1089-8646pii
S0888-7543(83)71302-9journal_volume
17pub_type
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