Samson F, Mesnard L, Heimburger M, Hanauer A, Chevallay M, Mercadier J J, Pelissier J F, Feingold N, Junien C, Mandel J L
CNRS URA 1159, Le Plessis Robinson, France.
Am J Hum Genet. 1995 Jul;57(1):120-6.
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.
肌管性肌病是一种严重的先天性疾病，呈X连锁遗传（MTM1；麦库西克编号31040）。它已被定位到X染色体长臂的Xq27 - 28区域。随后在多项研究中，由DXS304、DXS15、DXS52和F8C组成的连锁群建立了显著的连锁关系。迄今为止，已发表的连锁研究未提供严重新生儿肌管性肌病（XLMTM）存在遗传异质性的证据。我们研究了一个典型的XLMTM家系，未发现与这些标记存在连锁关系。我们的研究结果强烈提示肌管性肌病存在遗传异质性，并表明在连锁研究中使用Xq28标记进行产前诊断和遗传咨询时应格外谨慎。
