Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28

X-linked myopathy with excessive autophagy (XMEA, MIM 310440) is a rare inh erited mild myopathy. We have used 32 polymorphic markers spanning the enti re X chromosome to exclude most of the chromosome except the Xq28 region in a large XMEA family. Using three additional families for linkage analysis, we have obtained a significant two-point lod score with marker DXS1183 (Z = 2.69 at theta = 0). Multipoint linkage analysis confirmed the assignment of the disease locus with a maximal lod score of 2.74 obtained at recombina tion fraction zero. Linkage of XMEA to the Xq28 region is thus firmly estab lished. In addition, we have ruled out the Emery-Dreifuss muscular dystroph y to be allelic with XMEA by direct sequencing of the emerin gene in three of our families.