Confirmation of the Type 2 Myotonic Dystrophy (CCTG) Expansion Mutation in Patients with Proximal Myotonic Myopathy/Proximal Myotonic Dystrophy of Different European Origins: A Single Shared Haplotype Indicates an Ancestral Founder Effect

Publication | Open Access

DOI Full Paper Access

139

Citations

References

2003

Year

Linda L. Bachinski, Bjarne Udd, G. Meola, Valeria Sansone, Guillaume Bassez, B. Eymard, Charles A. Thornton, Richard T. Moxley, Peter S. Harper, Mark T. Rogers,

The American Journal of Human Genetics

Mendelian DisorderGenetic DisorderMedicineGeneticsExpansion MutationClinical GeneticsType 2Myotonic DystrophyVariant InterpretationMonogenic Disorders