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    Acta Myol. 2008 Dec;27:90-7.

    Candidate-gene testing for orphan limb-girdle muscular dystrophies.

    Source

    Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy.

    Abstract

    The term limb-girdle muscular dystrophies (LGMD) identify about two dozens of distinct genetic disorders. Additional genes must play a role, since there are LGMD families excluded from any known locus. The aim of our work is to test a number of candidate genes in unclassified LGMD patient and control DNA samples. We selected the following 11 candidate genes: myozenin 1, 2 and 3, gamma-filamin, kinectin-1, enolase-3 beta, ZASP, TRIM 11 and TRIM 17, OZZ and zeta-sarcoglycan. These candidates were chosen for a combination of different reasons: chromosomal position, sequence homology, interaction properties or muscular dystrophy phenotypes in animal models. The exon and flanking intron sequences were subjected to molecular testing by comparative mutation scanning by HT-DHPLC of LGMD patients versus control. We identified a large number of variations in any of the genes in both patients and controls. Correlations with disease or possible modifying effects on the LGMD phenotype remain to be investigated.

    PMID:
    19472918
    [PubMed - indexed for MEDLINE]
    PMCID:
    PMC2858943
    Free PMC Article

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