A new mutation in a family with cold-aggravated myotonia disrupts Na+ channel inactivation

Neurology

Volumn 56, Issue 7, 2001, Pages 878-884

  Wu, F F ^a,e   Takahashi, M P ^b   Pegoraro, E ^c   Angelini, C ^c   Colleselli, P ^d   Cannon, S C ^b   Hoffman, E P ^e  

^a UNIVERSITY OF PITTSBURGH   (United States)

^b MASSACHUSETTS GENERAL HOSPITAL   (United States)

^c UNIVERSITY OF PADOVA   (Italy)

^d Azienda ULSS N 1   (Italy)

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

Author keywords

[No Author keywords available]

Indexed keywords

LEUCINE; SODIUM; SODIUM CHANNEL; VALINE;

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; COLD SENSITIVITY; ELECTROPHYSIOLOGY; FAMILIAL DISEASE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; MALE; MUSCLE HYPERTROPHY; MUSCLE WEAKNESS; MYOTONIA; PATHOPHYSIOLOGY; PERIODIC PARALYSIS; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM; SKELETAL MUSCLE; SODIUM CURRENT;

EID: 0035836631     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.56.7.878     Document Type: Article

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