Co-segregation of DM2 with a recessive CLCN1 mutation in juvenile onset of myotonic dystrophy type 2

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

Signal Transduction, Mendelian Disorder, Genetic Disorder +7

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 · 1.6K citations

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

Rare Diseases, Gene Related, Mendelian Disorder +15

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

Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy

Rajesh S. Savkur, Anne V. Philips, Thomas A. Cooper · Nature Genetics · 2001 · 793 citations

Insulin Resistance, Metabolic Syndrome, Aberrant Regulation +8