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  • Title: Linkage studies in a new X-linked myopathy, suggesting exclusion of DMD locus and tentative assignment to distal Xq.
    Author: Saviranta P, Lindlöf M, Lehesjoki AE, Kalimo H, Lang H, Sonninen V, Savontaus ML, de la Chapelle A.
    Journal: Am J Hum Genet; 1988 Jan; 42(1):84-8. PubMed ID: 2892402.
    Abstract:
    We here report linkage studies in a family suffering from a recently described hereditary muscle disease named X-linked myopathy with excessive autophagy (XMEA). Significant lod scores excluding linkage to the Duchenne-Becker muscular dystrophy locus were found. Several other loci on the short and long arms of the X chromosome produced negative lod scores, whereas probe DX13-7 defining locus DXS15 showed no recombinants and a lod score of z = 0.903 at theta = .0. Further studies should be done to determine whether the gene for XMEA is (1) located at Xq and (2) caused by a mutation of the Emery-Dreifuss muscular dystrophy gene, which has been assigned to the same region.
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