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.

journal_name

Genomics

journal_title

Genomics

authors

Schwemmle S,Wolff K,Palmucci LM,Grimm T,Lehmann-Horn F,Hübner C,Hauser E,Iles DE,MacLennan DH,Müller CR

doi

10.1006/geno.1993.1302

subject

Has Abstract

pub_date

1993-07-01 00:00:00

pages

205-7

issue

1

eissn

0888-7543

issn

1089-8646

pii

S0888-7543(83)71302-9

journal_volume

17

pub_type

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