Concepedia

Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland

Tiina Suominen, Linda L. Bachinski, S. Auvinen, Peter Hackman, Keith Baggerly, C. Angelini, Leena Peltonen, Ralf Krahe, Bjarne Udd

European Journal of Human Genetics · 2011 · 135 citations · 26 references

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26

Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member

J. David Brook, Mila E. McCurrach, H G Harley et al. · Cell · 1992 · 2.8K citations

, , +8

Myotonic Dystrophy Mutation: an Unstable CTG Repeat in the 3′ Untranslated region of the Gene

Mani S. Mahadevan, Catherine Tsilfidis, Luc A. Sabourin et al. · Science · 1992 · 1.7K citations

, , +14

An Unstable Triplet Repeat in a Gene Related to Myotonic Muscular Dystrophy

Ying‐Hui Fu, Antonio Pizzuti, Raymond G. Fenwick et al. · Science · 1992 · 1.5K citations

, , +11

Myotonic Dystrophy Type 2 Caused by a CCTG Expansion in Intron 1 of <i>ZNF9</i>

Christina L. Liquori, K. Ricker, Melinda L. Moseley et al. · Science · 2001 · 1.2K citations

, , +9

Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome

Steven G. Pavlakis, Peter C. Phillips∥, Salvatore DiMauro et al. · Annals of Neurology · 1984 · 1.2K citations

, , +17