Abstract
X-linked myopathy with excessive autophagy (XMEA, MIM 310440) is a rare inherited mild myopathy. We have used 32 polymorphic markers spanning the entire 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 θ = 0). Multipoint linkage analysis confirmed the assignment of the disease locus with a maximal lod score of 2.74 obtained at recombination fraction zero. Linkage of XMEA to the Xq28 region is thus firmly established. In addition, we have ruled out the Emery-Dreifuss muscular dystrophy to be allelic with XMEA by direct sequencing of the emerin gene in three of our families.
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Villard, L., des Portes, V., Levy, N. et al. Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28. Eur J Hum Genet 8, 125–129 (2000). https://doi.org/10.1038/sj.ejhg.5200432
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DOI: https://doi.org/10.1038/sj.ejhg.5200432
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