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pro vyhledávání: '"Frederic Hamel"'
Autor:
Richard Pelletier, Frederic Hamel, Daniel Beaulieu, Lysanne Patry, Caroline Haineault, Mark Tarnopolsky, Benedikt Schoser, Jack Puymirat
Publikováno v:
Neurobiology of Disease, Vol 36, Iss 1, Pp 181-190 (2009)
Myotonic dystrophy type 1 (DM1) and type II (DM2) are dominantly inherited multisystemic disorders. DM1 is triggered by the pathological expansion of a (CTG)n triplet repeat in the DMPK gene, whereas a (CCTG)n tetranucleotide repeat expansion in the
Externí odkaz:
https://doaj.org/article/ccab7083635f4ddcb63b3361a863e3ff