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Matches in SemOpenAlex for { <https://semopenalex.org/work/W2023407725> ?p ?o ?g. }

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• W2023407725 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." @default.
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• W2023407725 date "2000-02-01" @default.
• W2023407725 modified "2023-10-17" @default.
• W2023407725 title "Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28" @default.
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• W2023407725 doi "https://doi.org/10.1038/sj.ejhg.5200432" @default.
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