Concepedia

Male Hypogonadism in Myotonic Dystrophy is Related to (Ctg)N Triplet Mutation

I. Mastrogiacomo, E. Pagani, Giuseppe Novelli, C. Angelini, Massimo Gennarelli, E. Menegazzo, G. Bonanni, Bruno Dallapiccola

Journal of Endocrinological Investigation · 1994 · 42 citations · 6 references

DOI

Concepts

References

6

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

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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

, , +11

Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy.

Helen G. Harley, S A Rundle, J. MacMillan et al. · PubMed · 1993 · 379 citations

, , +9

(CTG)n Triplet Mutation and Phenotype Manifestations in Myotonic Dystrophy Patients

Giuseppe Novelli, Massimo Gennarelli, E. Menegazzo et al. · Biochemical Medicine and Metabolic Biology · 1993 · 55 citations

, , +12

Hypothalamic-pituitary-testicular function in 70 patients with myotonic dystrophy

J. Arco Vázquez, José A. Piniés, P. Martul et al. · Journal of Endocrinological Investigation · 1990 · 53 citations

, , +14