Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance

Neurology

Volumn 50, Issue 4, 1998, Pages 1176-1179

  Plassart Schiess, E ^a   Gervais, A ^a   Eymard, B ^a   Lagueny, A ^b   Pouget, J ^c   Warter, J M ^d   Fardeau, M ^a   Jentsch, T J ^e   Fontaine, B ^a  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b HÔPITAL PELLEGRIN   (France)

^c TIMONE HOSPITAL   (France)

^d HÔPITAL CIVIL   (France)

^e UNIVERSITY OF HAMBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CHLORIDE CHANNEL; DNA;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; CLINICAL ARTICLE; GENE MUTATION; HUMAN; MYOPATHY; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; THOMSEN DISEASE;

EID: 0031900418     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.50.4.1176     Document Type: Article

References (10)

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3. Koty PP, Pegoraro E, Hobson G, et al. Myotonia and the muscle chloride channel: dominant mutations show variable penetrance and founder effect. Neurology 1996;47:963-968.
4. Zhang J, George AL Jr, Griggs RC, et al. Mutations in the human skeletal muscle chloride channel gene (CLCN1) associated with dominant and recessive myotonia congenita. Neurology 1996;47:993-998.
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10. Jentsch TJ, Lorenz C, Pusch M, Steinmeyer K. Myotonias due to CLC-1 chloride channel mutations. In: Dawson DC, Frizzell RA, eds. Ion channels and genetic disease. New York: Rockefeller University Press, 1995:149-159.