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Literature DB >> 1453428

Expansion of the myotonic dystrophy gene in Italian and Spanish patients.

S Melchionda¹, A Cobo, M Gennarelli, L Martorell, C Fattorini, M Baiget, A Lopez de Munain, K Johnson, P Shelbourne, G Novelli.

Abstract

Myotonic dystrophy results from expansion of a (CTG)n repeat at the 3' untranslated region of the myotonin-protein kinase gene. We show here the genomic analysis of 322 symptomatic patients with the cDNA-25 probe detecting disease specific EcoRI restriction fragments. The expansion was found in the majority of Italian and Spanish patients (92%). The implications of these results for the detection of symptomatic patients in southern Europe are discussed.

Entities: Chemical

Mesh：

Substances：
DNA Probes

Year: 1992 PMID： 1453428 PMCID： PMC1016172 DOI： 10.1136/jmg.29.11.789

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

9 in total

1. Expansion of unstable DNA region in Japanese myotonic dystrophy patients.

Authors: H Yamagata; T Miki; T Ogihara; M Nakagawa; I Higuchi; M Osame; P Shelbourne; J Davies; K Johnson
Journal: Lancet Date: 1992-03-14 Impact factor: 79.321

2. Criteria for establishing the validity of genetic recombination in myotonic dystrophy.

Authors: R C Griggs; D S Wood
Journal: Neurology Date: 1989-03 Impact factor: 9.910

3. Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene.

Authors: M Mahadevan; C Tsilfidis; L Sabourin; G Shutler; C Amemiya; G Jansen; C Neville; M Narang; J Barceló; K O'Hoy
Journal: Science Date: 1992-03-06 Impact factor: 47.728

4. An unstable triplet repeat in a gene related to myotonic muscular dystrophy.

Authors: Y H Fu; A Pizzuti; R G Fenwick; J King; S Rajnarayan; P W Dunne; J Dubel; G A Nasser; T Ashizawa; P de Jong
Journal: Science Date: 1992-03-06 Impact factor: 47.728

5. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox.

Authors: Y H Fu; D P Kuhl; A Pizzuti; M Pieretti; J S Sutcliffe; S Richards; A J Verkerk; J J Holden; R G Fenwick; S T Warren
Journal: Cell Date: 1991-12-20 Impact factor: 41.582

6. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy.

Authors: H G Harley; J D Brook; S A Rundle; S Crow; W Reardon; A J Buckler; P S Harper; D E Housman; D J Shaw
Journal: Nature Date: 1992-02-06 Impact factor: 49.962

7. Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy.

Authors: J Buxton; P Shelbourne; J Davies; C Jones; T Van Tongeren; C Aslanidis; P de Jong; G Jansen; M Anvret; B Riley
Journal: Nature Date: 1992-02-06 Impact factor: 49.962

8. Cloning of the essential myotonic dystrophy region and mapping of the putative defect.

Authors: C Aslanidis; G Jansen; C Amemiya; G Shutler; M Mahadevan; C Tsilfidis; C Chen; J Alleman; N G Wormskamp; M Vooijs
Journal: Nature Date: 1992-02-06 Impact factor: 49.962

9. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

Authors: J D Brook; M E McCurrach; H G Harley; A J Buckler; D Church; H Aburatani; K Hunter; V P Stanton; J P Thirion; T Hudson
Journal: Cell Date: 1992-02-21 Impact factor: 41.582