A linkage study of a large pedigree with X linked centronuclear myopathy.
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.
Starr
J
J
Wessex Regional Cytogenetics Unit, Salisbury General Hospital, Wiltshire.
Lamont
M
M
Iselius
L
L
Harvey
J
J
Heckmatt
J
J
D002467:Cell Nucleus / Q000648:ultrastructure; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009133:Muscular Atrophy / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D014960:X Chromosome