Premium
Linkage studies of Myotonia congenita and Paramyotonia congenita
Author(s) -
Bender K.,
Senff H.,
Steiert A.,
Lagodny H.,
Wenker T. F.,
Koch M.
Publication year - 1989
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1989.tb03170.x
Subject(s) - myotonia congenita , genetics , myotonia , genetic linkage , linkage (software) , locus (genetics) , lod score , biology , chromosome , gene mapping , gene , myotonic dystrophy
Six German families segregating for Myotonia congenita (MC) and eight families from Germany and Great Britain with Paramyotonia congenita (PC) were tested for linkage relationships using 35 serological and biochemical markers. No linkage of MC to any of the markers was evident, but a positive sum of lod scores for PC vs. the HP locus (ẑ= 1.16, θ=0.16) was found. The results encourage further investigations involving chromosome 16 markers.