The Novel Contiguous Gene Syndrome of Myotubular Myopathy (MTM1), Male Hypogenitalism and Delection in Xq28: Report of the First Familial Case

Abstrakt

Hu et al. (1996) and Laporte et al. (1997) recently proposed a novel contiguous gene syndrome of myotubular myopathy, abnormal male genital development and deletion in Xq28.