CIC-1 chloride channel mutations in myotonia congenita: Variable penetrance of mutations shifting the voltage dependence

Human Molecular Genetics

Volumn 7, Issue 11, 1998, Pages 1753-1760

  Kubisch, Christian ^a   Schmidt Rose, Thomas ^a   Fontaine, Bertrand ^b   Bretag, Allan H ^c   Jentsch, Thomas J ^a  

^a UNIVERSITY OF HAMBURG   (Germany)

^b PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^c UNIVERSITY OF SOUTH AUSTRALIA   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

CHLORIDE CHANNEL; CHLORIDE ION; MEMBRANE ENZYME; CLC 1 CHANNEL; CLC-1 CHANNEL; MUSCLE PROTEIN; RECOMBINANT PROTEIN;

ARTICLE; CHLORIDE CURRENT; CLINICAL ARTICLE; DOMINANT INHERITANCE; ELECTRIC POTENTIAL; GENE EXPRESSION SYSTEM; HUMAN; HUMAN CELL; MISSENSE MUTATION; MYOTONIA; OOCYTE; PENETRANCE; PRIORITY JOURNAL; RECESSIVE INHERITANCE; XENOPUS; AMINO ACID SEQUENCE; ANIMAL; DOMINANT GENE; ELECTROPHYSIOLOGY; FEMALE; GENETICS; METABOLISM; METHODOLOGY; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PHYSIOLOGY; RECESSIVE GENE; SITE DIRECTED MUTAGENESIS; THOMSEN DISEASE;

AMINO ACID SEQUENCE; ANIMALS; CHLORIDE CHANNELS; DNA MUTATIONAL ANALYSIS; ELECTROPHYSIOLOGY; FEMALE; GENES, DOMINANT; GENES, RECESSIVE; HUMANS; MOLECULAR SEQUENCE DATA; MUSCLE PROTEINS; MUTAGENESIS, SITE-DIRECTED; MUTATION; MYOTONIA CONGENITA; OOCYTES; RECOMBINANT PROTEINS;

EID: 0031596021     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/7.11.1753     Document Type: Article

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