title: Minimal somatic instability of CTG repeat in congenital myotonic dystrophy.
abstract: The molecular basis of myotonic dystrophy was identified as an unstable trinucleotide (CTG) repeat in the 3' untranslated region of an mRNA encoding a member of the protein kinase family. Unstable DNA was analyzed from various tissue samples of a patient with severe congenital myotonic dystrophy. In BamHI- or BglI-digested DNA, a normal band plus differently expanded ones were identified in various tissue samples. These observations demonstrated somatic instability of the repeat in a congenital myotonic dystrophy patient.
authors.affiliation: School of Health Sciences, Sapporo Medical University School of Medicine, Japan.
authors.forename: N
authors.initials: N
authors.lastname: Tachi
authors.forename: K
authors.initials: K
authors.lastname: Ohya
authors.forename: S
authors.initials: S
authors.lastname: Chiba
authors.forename: T
authors.initials: T
authors.lastname: Sato
authors.forename: K
authors.initials: K
authors.lastname: Kikuchi
mesh_terms: D015139:Blotting, Southern; D015342:DNA Probes; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009223:Myotonic Dystrophy / Q000175:diagnosis / Q000235:genetics*; D065636:Myotonin-Protein Kinase; D009711:Nucleotides / Q000235:genetics*; D011247:Pregnancy; D011494:Protein Kinases / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D012333:RNA, Messenger / Q000235:genetics*; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics*
chemical_list: C585517:DMPK protein, human; D015342:DNA Probes; D009711:Nucleotides; D012333:RNA, Messenger; D011494:Protein Kinases; D065636:Myotonin-Protein Kinase; D017346:Protein Serine-Threonine Kinases