Myotonic Dystrophy Type 2: Human Founder Haplotype and Evolutionary Conservation of the Repeat Tract

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 orig...

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Autori principali: Liquori, Christina L., Ikeda, Yoshio, Weatherspoon, Marcy, Ricker, Kenneth, Schoser, Benedikt G. H., Dalton, Joline C., Day, John W., Ranum, Laura P. W.
Natura: Artigo
Lingua:Inglês
Pubblicazione: The American Society of Human Genetics 2003
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1180607/
https://ncbi.nlm.nih.gov/pubmed/14505273
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