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MedicineCardiologyMolecular GeneticsClinical CardiologyMolecular PathologyNeuromuscular DisordersInherited CardiomyopathiesMuscular DystrophyMyopathy EvaluationGenetic Testing For MyopathyMuscular Dystrophy GeneticsMuscular Dystrophy PathophysiologyMyofibrillar MyopathyTrinucleotide Repeat Disorders
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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
Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy
Helen G. Harley, J. David Brook, S.A. Rundle et al. · Nature · 1992 · 732 citations