Novel CLCN1 mutations with unique clinical and electrophysiological consequences

Brain

Volumn 125, Issue 11, 2002, Pages 2392-2407

  Wu, Fen Fen ^a,c   Ryan, Aisling ^h   Devaney, Joseph ^c,d   Warnstedt, Maike ⁱ   Korade Mirnics, Zeljka ^a   Poser, Barbara ⁱ   Escriva, Maria Jose ⁱ   Pegoraro, Elena ^a   Yee, Audrey S ^e   Felice, Kevin J ^f   Giuliani, Michael J ^b   Mayer, Richard F ^g   Mongini, Tiziana ^j   Palmucci, Laura ^j   Marino, Michael ^d   Rüdel, Reinhardt ^h   Hoffman, Eric P ^a,c   Fahlke, Christoph ^i,k  

^a UNIVERSITY OF PITTSBURGH   (United States)

^b UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^c CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^d TRANSGENOMIC INC   (United States)

^e UNIVERSITY OF COLORADO   (United States)

^f UNIVERSITY OF CONNECTICUT HEALTH CENTER   (United States)

^g UNIVERSITY OF MARYLAND MEDICAL CENTER   (United States)

^h UNIVERSITY OF ULM   (Germany)

ⁱ UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

^j UNIVERSITY OF TURIN   (Italy)

^k CENTRO DE ESTUDIOS CIENTÍFICOS CECS   (Chile)

more..

Author keywords

CLCN1; Electrophysiology; Mutation; Myotonia congenita; Voltage gated chloride channel

Indexed keywords

CHLORIDE CHANNEL; GENOMIC DNA; ION CHANNEL; SODIUM CHANNEL;

ADOLESCENT; ADULT; ARTICLE; CHILD; FEMALE; GENE MUTATION; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; MEMBRANE ELECTROPHYSIOLOGY; MISSENSE MUTATION; MUSCLE DISEASE; MYOTONIA; NONSENSE MUTATION; PRIORITY JOURNAL; SITE DIRECTED MUTAGENESIS; THOMSEN DISEASE;

EID: 0036846792     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/awf246     Document Type: Article

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