title: Myotonic dystrophy phenotype without expansion of (CTG)n repeat: an entity distinct from proximal myotonic myopathy (PROMM)?
abstract: 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 DM. These patients had multi-systemic manifestations that were distinguishable from those seen in other myotonic disorders, including proximal myotonic myopathy (PROMM). In one additional family, two symptomatic members showed no expanded (CTG)n repeats, while their affected relatives had the expanded repeats. DM haplotype analysis failed to exclude the DMPK locus as a possible site of mutation in each family; however, DMPK mRNA levels were normal. We conclude that a mutation(s) other than the expanded (CTG)n repeat can cause the DM phenotype. The mutation(s) in these families remain(s) to be mapped and characterized.
authors.affiliation: San Camillo Hospital, Rome, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Abbruzzese
authors.forename: R
authors.initials: R
authors.lastname: Krahe
authors.forename: M
authors.initials: M
authors.lastname: Liguori
authors.forename: D
authors.initials: D
authors.lastname: Tessarolo
authors.forename: M J
authors.initials: MJ
authors.lastname: Siciliano
authors.forename: T
authors.initials: T
authors.lastname: Ashizawa
authors.forename: M
authors.initials: M
authors.lastname: Giacanelli
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002888:Chromosomes, Human, Pair 19; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009223:Myotonic Dystrophy / Q000235:genetics*; D065636:Myotonin-Protein Kinase; D010375:Pedigree; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*
chemical_list: C585517:DMPK protein, human; D065636:Myotonin-Protein Kinase; D017346:Protein Serine-Threonine Kinases