Case Reports
doi: 10.1136/jmg.27.5.281.
A linkage study of a large pedigree with X linked centronuclear myopathy
Affiliations
- PMID: 2352255
- PMCID: PMC1017075
- DOI: 10.1136/jmg.27.5.281
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Case Reports
A linkage study of a large pedigree with X linked centronuclear myopathy
J Med Genet.
1990 May.
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.
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