A novel muscle sodium channel mutation causes painful congenital myotonia

Annals of Neurology

Volumn 42, Issue 5, 1997, Pages 811-814

  Rosenfeld, Jeffrey ^a   Sloan Brown, Karen ^b   George Jr , Alfred L ^b  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACETAZOLAMIDE; BACLOFEN; CARBAMAZEPINE; CYCLOBENZAPRINE; DANTROLENE; DIAZEPAM; FLECAINIDE; MEXILETINE; MUSCLE PROTEIN; PHENYTOIN; QUININE; SODIUM CHANNEL; TOCAINIDE;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; DRUG RESISTANCE; FEMALE; GENE MUTATION; HUMAN; INTERCOSTAL MUSCLE; MYALGIA; PRIORITY JOURNAL; THOMSEN DISEASE;

ALLELES; DNA MUTATIONAL ANALYSIS; EXONS; FAMILY HEALTH; FEMALE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MUSCLE, SKELETAL; MYOTONIA CONGENITA; PAIN; PEDIGREE; PHENOTYPE; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SODIUM CHANNELS;

EID: 0030815221     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.410420520     Document Type: Article

References (20)

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