Key result
Genetic linkage analysis in a three-generation family confirmed linkage between X-linked centronuclear myopathy and Xq28 probes ST14, DX13, and F8C (Z = 3.21).
Observational
Effect estimate: Z = 3.21
The study confirms genetic linkage of X-linked centronuclear myopathy to the Xq28 region, though conflicting data from other families suggests genetic heterogeneity.
May inform genetic counseling in similar families; leaves open heterogeneity in 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.
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Starr et al. (1990) conducted an observational in X linked centronuclear myopathy. Xq28 probes ST14, DX13, and F8C was evaluated on Linkage to the CNM locus (Z = 3.21). Genetic linkage analysis in a three-generation family confirmed linkage between X-linked centronuclear myopathy and Xq28 probes ST14, DX13, and F8C (Z = 3.21).
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