Myotonia congenita: Novel mutations in CLCN1 gene and functional characterizations in Italian patients

Journal of the Neurological Sciences

Volumn 318, Issue 1-2, 2012, Pages 65-71

  Ulzi, Gianna ^a   Lecchi, Marzia ^b   Sansone, Valeria ^a   Redaelli, Elisa ^b   Corti, Eleonora ^b   Saccomanno, Domenica ^a   Pagliarani, Serena ^a   Corti, Stefania ^a   Magri, Francesca ^a   Raimondi, Monika ^c   D'Angelo, Grazia ^d   Modoni, Anna ^e   Bresolin, Nereo ^a,d   Meola, Giovanni ^a   Wanke, Enzo ^b   Comi, Giacomo P ^a   Lucchiari, Sabrina ^a  

^a UNIVERSITY OF MILAN   (Italy)

^b UNIVERSITY OF MILANO BICOCCA   (Italy)

^c REGIONAL HOSPITAL OF LUGANO   (Switzerland)

^d SCIENTIFIC INSTITUTE   (Italy)

^e CATHOLIC UNIVERSITY   (Italy)

Author keywords

Becker's generalized myotonia; Channelopathy; CLCN1 gene; Myotonia congenita; Skeletal muscle; Thomsen's disease

Indexed keywords

ALANINE; ARGININE; CHLORIDE; CHLORIDE CHANNEL; CYSTEINE; GLUTAMIC ACID; GLUTAMINE; GLYCINE; ISOLEUCINE; LEUCINE; SERINE; THREONINE; TRYPTOPHAN; VALINE;

ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CLCN1 GENE; CLINICAL ARTICLE; ELECTROPHYSIOLOGY; FEMALE; GENE; GENE DELETION; GENOTYPE; HUMAN; HUMAN CELL; ITALY; MALE; MEMBRANE STEADY POTENTIAL; MISSENSE MUTATION; MUSCLE FIBER MEMBRANE POTENTIAL; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN STRUCTURE; REPOLARIZATION; SCHOOL CHILD; THOMSEN DISEASE;

ADOLESCENT; ADULT; AGED; CELL LINE; CELL MEMBRANE; CHILD; CHLORIDE CHANNELS; ELECTRIC CONDUCTIVITY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; ITALY; MALE; MIDDLE AGED; MUTATION, MISSENSE; MYOTONIA CONGENITA; PATCH-CLAMP TECHNIQUES; YOUNG ADULT;

EID: 84861628808     PISSN: 0022510X     EISSN: 18785883     Source Type: Journal    
DOI: 10.1016/j.jns.2012.03.024     Document Type: Article

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