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  • Title: Linkage analysis in families with autosomal recessive limb-girdle muscular dystrophy (LGMD) and 6q probes flanking the dystrophin-related sequence.
    Author: Passos-Bueno MR, Terwilliger J, Ott J, Vainzof M, Love DR, Davies KE, Zatz M.
    Journal: Am J Med Genet; 1991 Jan; 38(1):140-6. PubMed ID: 2012126.
    Abstract:
    The clinical similarity with the X-linked muscular dystrophies and the uniqueness of the homology between the DMD-like and the 1.8 kb sequences at the carboxyterminal domain of the dystrophin gene led to the suggestion that this 6q sequence might be a strong candidate for one of the autosomal recessive muscular dystrophies. Thus, we tested, through linkage analysis, if 6q probes flanking the dystrophin-homologous sequence are linked to the gene responsible for limb-girdle dystrophy (LGMD). A total of 226 individuals (57 patients and 169 unaffected relatives) from 19 large unrelated Brazilian families was studied. Results of two-point analysis excluded linkage with MYB (6q22-23) and ESR (6q24-q27) at 8 = 0.10 and with TCP1 (6q25-q27) at 0 = 0.05, indicating that the LGMD gene is not in the 6q23-q27 region. Therefore, the dystrophin-homologue sequence is not the gene responsible for LGMD.
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