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Volumn 57, Issue 8, 2000, Pages 1199-1203

A patient with 2 different repeat expansion mutations

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CHROMOSOME ANALYSIS; DAILY LIFE ACTIVITY; DETERIORATION; DISABILITY; DNA DETERMINATION; ELECTROENCEPHALOGRAPHY; FEMALE; GENE MUTATION; HUMAN; MENTAL DEFICIENCY; MYOCLONUS EPILEPSY; MYOTONIC DYSTROPHY; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; TRINUCLEOTIDE REPEAT;

EID: 0033904705     PISSN: 00039942     EISSN: None     Source Type: Journal    
DOI: 10.1001/archneur.57.8.1199     Document Type: Article
Times cited : (10)

References (31)
  • 1
    • 0008429677 scopus 로고    scopus 로고
    • Myotonic Dystrophy. 2nd ed. London, England: WB Saunders Co
    • Harper, P.S.1
  • 2
  • 3
    • 0026566108 scopus 로고
    • Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3-prime end of a transcript encoding a protein kinase family member
    • (1992) Cell , vol.68 , pp. 799-808
    • Brook, J.D.1    McCurrach, M.E.2    Harley, H.G.3
  • 6
    • 0008444147 scopus 로고    scopus 로고
    • Hotspots - Caught in the middle: Two genes troubled by trinucleotide expansion in myotonic dystrophy
    • (1998) Clin Genet , vol.53 , pp. 426-432
    • Goldberg, Y.P.1
  • 12
    • 0028006941 scopus 로고
    • Thornton-Griggs-Moxley disease: Myotonic dystrophy type 2
    • (1994) Ann Neurol , vol.36 , pp. 803-804
    • Rowland, L.P.1
  • 13
    • 0018428007 scopus 로고
    • Progressive myoclonus epilepsy: Genetic and nosological aspects with special reference to 107 Finnish patients
    • (1979) Clin Genet , vol.15 , pp. 382-398
    • Norio, R.1    Koskiniemi, M.2
  • 25
    • 0025371052 scopus 로고
    • Classification of progressive myoclonus epilepsies and related disorders
    • (1990) Ann Neurol , vol.28 , pp. 113-116


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.