title: A linkage study of a large pedigree with X linked centronuclear myopathy.
abstract: 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.
authors.affiliation: Wessex Regional Cytogenetics Unit, Salisbury General Hospital, Wiltshire.
authors.forename: J
authors.initials: J
authors.lastname: Starr
authors.forename: M
authors.initials: M
authors.lastname: Lamont
authors.forename: L
authors.initials: L
authors.lastname: Iselius
authors.forename: J
authors.initials: J
authors.lastname: Harvey
authors.forename: J
authors.initials: J
authors.lastname: Heckmatt
mesh_terms: 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