A linkage study of a large pedigree with X linked centronuclear myopathy. Issue 5 (May 1990)

• Record Type: Journal Article
• Authors: Starr, J; Lamont, M; Iselius, L; Harvey, J; Heckmatt, J
• Is Part Of: Journal of medical genetics. Volume 27:Issue 5(1990)
• Page Start: 281
• Page End: 283
• Publication Date: 1990-05
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.27.5.281
• Languages: English
• ISSNs: 1468-6244

Abstract

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.