title: Myotonic dystrophy: over-expression or/and under-expression? A critical review on a controversial point.
abstract: Myotonic dystrophy (DM) results from the amplification of an unstable (CTG)n sequence in the 3' untranslated region of the myotonin-protein kinase (MT-PK) gene. The expression of the enlarged allele in DM patients with a number of repeats below or beyond 200, was analysed by three different groups. Two groups showed a decreased or absent expression of mutant alleles in DM adults, in congenitally affected infants (CDM) and in an affected fetus. On the contrary, another group reported the increased expression of the mutated allele in several tissues of a CDM infant. These discrepancies may be explained by the different methods used, the small number of patients, the individuals and tissues used as controls, or reflect the use of primers located in different regions of the MT-PK gene.
authors.affiliation: INSERM U73, Château de Longchamp, Bois de Boulogne, Paris, France.
authors.forename: H
authors.initials: H
authors.lastname: Hofmann-Radvanyi
authors.forename: C
authors.initials: C
authors.lastname: Junien
mesh_terms: D000328:Adult; D001483:Base Sequence; D005333:Fetus; D015870:Gene Expression; D006801:Humans; D009223:Myotonic Dystrophy / Q000235:genetics*; D065636:Myotonin-Protein Kinase; D009928:Organ Specificity; D011494:Protein Kinases / Q000096:biosynthesis / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases; D012333:RNA, Messenger / Q000032:analysis / Q000096:biosynthesis; D012091:Repetitive Sequences, Nucleic Acid; D015183:Restriction Mapping
chemical_list: C585517:DMPK protein, human; D012333:RNA, Messenger; D011494:Protein Kinases; D065636:Myotonin-Protein Kinase; D017346:Protein Serine-Threonine Kinases