Somatic mosaicism of p (CTG) n expansion in a case of myotonic dystrophy with parotid tumor

Clinical Neurology

Volumn 38, Issue 8, 1998, Pages 736-738

  Ogata, Katsuhisa ^a   Takahashi, Akihiro ^a   Oguchi, Naohiko ^a   Ishitoya, Jun Ichi ^a   Fuse, Shigeru ^a   Shimpo, Tomoyuki ^a  

^a NATIONAL CENTER FOR GLOBAL HEALTH AND MEDICINE   (Japan)

Author keywords

Myotonic dystrophy; Myotonin protein kinase; p(CTG)n repeat expansion; Parotid tumor; Somatic mosaicism

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHROMOSOME 19Q; CHROMOSOME MOSAICISM; COMORBIDITY; GENETIC LINKAGE; HUMAN; MALE; MUSCLE BIOPSY; MYOTONIC DYSTROPHY; NUCLEOTIDE REPEAT; PAROTID GLAND TUMOR; SOUTHERN BLOTTING;

ADENOMA, PLEOMORPHIC; CHROMOSOMES, HUMAN, PAIR 19; GENES, DOMINANT; HUMANS; MALE; MIDDLE AGED; MOSAICISM; MYOTONIC DYSTROPHY; PAROTID NEOPLASMS; PROTEIN KINASES; PROTEIN-SERINE-THREONINE KINASES; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 0032428029     PISSN: 0009918X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (12)

1. Fu Y-H, Pizzuti A, Fenwick RG Jr, et al : An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 255 : 1256-1258, 1992
2. + untranslated region of the gene. Science 255 : 1253-1255, 1992
3. + end of a transcript encoding a protein kinase family member. Cell 68 : 799-808, 1992
4. Ashizawa T, Dubel JR, Harati Y : Somatic instability of CTG repeat in myotonic dystrophy. Neurology 43 : 2674-2678, 1993
5. Kinoshita M, Takahashi R, Hasegawa T, et al : (CTG)n expansions in various tissues from a myotonic dystrophy patient. Muscle Nerve 19 : 240-242, 1996
6. Buxton J, Shelbourne P, Davies J, et al : Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature 355 : 547-548, 1992
7. Kinoshita M, Igarashi A, Komori T, et al : Differences in CTG triplet repeat expansions in an ovarian cancer and cyst from a patient with myotonic dystrophy. Muscle Nerve 20 : 622-624, 1997
8. Brunner HG, Nillesen W, van Oost BA, et al : Presymptomatic diagnosis of myotonic dystrophy. J Med Genet 29 : 780-784, 1992
9. Goto I, Ichimaru K, Maruyama T, et al : An autopsy case of myotonic dystrophy with familial diabetes mellitus, a mixed tumor of the parotid gland and thymoma. Fukuoka Acta Med. 60 : 126-133, 1969
10. Wöhrle D, Kennerknecht I, Wolf M, et al : Heterogeneity of DM kinase repeat expansion in different fetal tissues and further expansion during cell proliferation in vitro : evidence for a causal involvement of methyl-directed DNA mismatch repair in triplet repeat stability. Hum Mol Genet 4 : 1147-1153, 1995
11. Richards RI, Sutherland GR : Simple repeat DNA is not replicated simply. Nature Genet 6 : 114-116, 1994