Article
Myotonic dystrophy type 2: human founder haplotype and evolutionary conservation of the repeat tract.
American journal of human genetics - 1 Oct 2003
Liquori Christina L, Ikeda Yoshio, Weatherspoon Marcy, Ricker Kenneth, Schoser Benedikt G H, Dalton Joline C, Day John W, Ranum Laura P W
Abstract excerpt
Myotonic dystrophy (DM), the most common form of muscular dystrophy in adults, can be caused by a mutation on either chromosome 19 (DM1) or 3 (DM2). In 2001, we demonstrated that DM2 is caused by a CCTG expansion in intron 1 of the zinc finger protein 9 (ZNF9) gene. To investigate the ancestral origins of the DM2 expansion, we compared haplotypes for 71 families with genetically confirmed DM2, using 19 short...
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