Genetic linkage heterogeneity in myotubular myopathy
- PMID: 7611280
- PMCID: PMC1801246
Genetic linkage heterogeneity in myotubular myopathy
Abstract
Myotubular myopathy is a severe congenital disease inherited as an X-linked trait (MTM1; McKusick 31040). It has been mapped to the long arm of chromosome X, to the Xq27-28 region. Significant linkage has subsequently been established for the linkage group comprised of DXS304, DXS15, DXS52, and F8C in several studies. To date, published linkage studies have provided no evidence of genetic heterogeneity in severe neonatal myotubular myopathy (XLMTM). We have investigated a family with typical XLMTM in which no linkage to these markers was found. Our findings strongly suggest genetic heterogeneity in myotubular myopathy and indicate that great care should be taken when using Xq28 markers in linkage studies for prenatal diagnosis and genetic counseling.
Comment in
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A mutation in the MTM1 gene invalidates a previous suggestion of nonallelic heterogeneity in X-linked myotubular myopathy.Am J Hum Genet. 1997 Jun;60(6):1542-4. doi: 10.1016/S0002-9297(07)64249-9. Am J Hum Genet. 1997. PMID: 9199578 Free PMC article. No abstract available.
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