Myotonic dystrophy phenotype without expansion of (CTG)n repeat: an entity distinct from proximal myotonic myopathy (PROMM)?

doi:10.1007/BF00873977

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Article

Myotonic dystrophy phenotype without expansion of (CTG)n repeat: an entity distinct from proximal myotonic myopathy (PROMM)?

Journal of neurology - 1 Oct 1996

Abbruzzese C, Krahe R, Liguori M, Tessarolo D, Siciliano M J, Ashizawa T, Giacanelli M

Abstract excerpt

Myotonic dystrophy (DM) is associated with an expansion of an unstable (CTG)n repeat in the 3' untranslated region of the DM protein kinase (DMPK) gene on chromosome 19q13.3. We studied six patients from two families who showed no expansions of the repeat, in spite of their clinical diagnosis of...

Topics

Adolescent
Adult
Aged
Chromosomes, Human, Pair 19
Female
Humans
Male
Middle Aged
Mutation
Myotonic Dystrophy
Myotonin-Protein Kinase
Pedigree
Protein Serine-Threonine Kinases

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