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J Med Genet. 1990 May; 27(5): 281–283.
PMCID: PMC1017075

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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.
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  • Heckmatt JZ, Sewry CA, Hodes D, Dubowitz V. Congenital centronuclear (myotubular) myopathy. A clinical, pathological and genetic study in eight children. Brain. 1985 Dec;108(Pt 4):941–964. [PubMed]
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