Linkage/Locus Report


Title: Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23.
Authors: Messina DN, Speer MC, Pericak-Vance MA, and McNally EM.
Journal: Am J Human Genet, 1997;61:909-917.
Department of Medicine, Committee on Genetics, University of Chicago, IL
PubMed Link: 9382102
Citation Type: phenotype/genotype (clinical and genetic data)
Study Design: family linkage study
Study Measurements:
Summary: A pedigree with conduction system disease and proximal, adult onset muscular dystrophy was reported with linkage to chromosome 6(q22-23). Elevated creatine kinases (CK’s) were variably observed with some affected subjects, but not all.  Minimal cardiac dilatation was present. Linkage was established with markers in the D6S262 and D6S1040 region with two point lod score of 4.99, which was mapped to a 3 cM region of chromosome 6q22-23.