RT Journal Article
SR Electronic
T1 A linkage study of a large pedigree with X linked centronuclear myopathy.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 281
OP 283
DO 10.1136/jmg.27.5.281
VO 27
IS 5
A1 J Starr
A1 M Lamont
A1 L Iselius
A1 J Harvey
A1 J Heckmatt
YR 1990
UL http://jmg.bmj.com/content/27/5/281.abstract
AB Centronuclear myopathy (CNM) is a muscle wasting disorder that occurs in three distinct forms. Previous studies have shown linkage between the X linked form of the disease and the Xq28 probes ST14, DX13, and F8C. Our study on a previously unreported, three generation, X linked CNM family confirms linkage between these markers and the CNM locus (Z = 3.21, theta = 00). However, results from the laboratory of J-L Mandel (Samson and Hanover, personal communication) on a number of X linked CNM families exclude genetic linkage from the region Xq26-qter, suggesting genetic heterogeneity in this condition.