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Scaled-down genetic analysis of myotonic dystrophy type 1 and type 2

Types 1 and 2 myotonic dystrophy are neuromuscular disorders caused by genomic expansions of simple sequence repeats. These mutations are unstable in somatic cells, which leads to an age-dependent increase of expansion length. Studies to determine whether changes in repeat size may influence disease...

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Autors principals: Nakamori, Masayuki, Sobczak, Krzysztof, Moxley, Richard T., Thornton, Charles A.
Format: Artigo
Idioma:Inglês
Publicat: 2009
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2767455/
https://ncbi.nlm.nih.gov/pubmed/19713112
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2009.07.012
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