The dominant chloride channel mutant G200R causing fluctuating myotonia: Clinical findings, electrophysiology, and channel pathology

Muscle and Nerve

Volumn 21, Issue 9, 1998, Pages 1122-1128

  Wagner, Susanne ^a   Deymeer, Feza ^b   Kürz, Lothar L ^a   Benz, Sandra ^a   Schleithoff, Lothar ^a   Lehmann Horn, Frank ^a   Serdaroǧlu, Piraye ^b   Özdemir, Coskun ^b   Rüdel, Reinhardt ^a  

^a UNIVERSITY OF ULM   (Germany)

^b Red Crescent Blood Center   (Turkey)

Author keywords

Chloride; CLCN1 gene; Fluctuations; Muscle disease; Myotonia congenita

Indexed keywords

CHLORIDE CHANNEL;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CLINICAL EXAMINATION; CLINICAL FEATURE; ELECTROPHYSIOLOGY; FEMALE; GENE MUTATION; HUMAN; MALE; MARKER GENE; MYALGIA; PATHOGENESIS; PRIORITY JOURNAL; THOMSEN DISEASE;

ADOLESCENT; ADULT; CHLORIDE CHANNELS; ELECTROMYOGRAPHY; ELECTROPHYSIOLOGY; FEMALE; GENES, DOMINANT; HUMANS; MALE; MIDDLE AGED; MUTATION; MYOTONIA; PATCH-CLAMP TECHNIQUES; PEDIGREE;

EID: 0031926906     PISSN: 0148639X     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-4598(199809)21:9<1122::AID-MUS2>3.0.CO;2-9     Document Type: Article

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