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Volumn 43, Issue 4, 2002, Pages 220-223

Schwartz-Jampel syndrome: Report of one case

Author keywords

Mexiletine; Myotonia; Schwartz Jampel syndrome

Indexed keywords

LIDOCAINE; MEXILETINE;

EID: 0036630717     PISSN: 16088115     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (3)

References (27)
  • 4
    • 9344222191 scopus 로고    scopus 로고
    • Recessive Schwartz-Jampel syndrome (SJS): Confirmation of linkage to chromosome 1p, evidence of genetic homogeneity and reduction of the SJS locus to a 3-cM interval
    • (1996) Hum Genet , vol.98 , pp. 380-385
    • Fontaine, B.1    Nicole, S.2    Lehmann-Horn, F.3
  • 8
    • 0030954971 scopus 로고    scopus 로고
    • The spectrum of arthrogryposis in 33 Chinese children
    • (1997) Brain Dev , vol.19 , pp. 187-196
    • Wong, V.1
  • 24
    • 0019991712 scopus 로고
    • Chondrodystrophic myotonia (Schwartz-Jampel syndrome): Report of a new case and follow-up of patients initially reported in 1969
    • (1982) Am J Med Genet , vol.13 , pp. 51-56
    • Edwards, W.C.1    Root, A.W.2
  • 26
    • 0030844013 scopus 로고    scopus 로고
    • Evaluation of the antimyotonic activity of mexiletine and some new analogs on sodium currents of single muscle fibers and on the abnormal excitability of the myotonic ADR mouse
    • (1997) J Pharmacol Exp Ther , vol.282 , pp. 93-100
    • De Luca, A.1    Pierno, S.2    Natuzzi, F.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.