Paralysis periodica paramyotonica caused by SCN4A Arg1448Cys mutation

Journal of the Formosan Medical Association

Volumn 105, Issue 6, 2006, Pages 503-507

  Hsu, Wei Chih ^a,b   Huang, Yung Chuan ^a   Wang, Chung Wei ^a   Hsueh, Chia Hsiang ^c   Lai, Ling Ping ^c   Yeh, Jiann Horng ^a,b  

^a SHIN KONG WU HO SU MEMORIAL HOSPITAL   (Taiwan)

^b FU JEN CATHOLIC UNIVERSITY   (Taiwan)

^c NATIONAL TAIWAN UNIVERSITY   (Taiwan)

Author keywords

Exercise test; Hyperkalemic periodic paralysis; Paralysis periodica paramyotonica; Paramyotonia congenita; Sodium channelopathy

Indexed keywords

ARGININE; CYSTEINE; SODIUM CHANNEL;

ADULT; ARTICLE; CASE REPORT; CLINICAL FEATURE; COLD EXPOSURE; ENVIRONMENTAL FACTOR; EXERCISE TEST; FAMILY HISTORY; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; HYPERKALEMIA; MALE; MEDICAL EXAMINATION; MUSCLE ACTION POTENTIAL; MUSCLE WEAKNESS; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PARALYSIS PERIODICA PARAMYOTONIA; PHENOTYPE; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; THOMSEN DISEASE;

EID: 33745617091     PISSN: 09296646     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0929-6646(09)60191-1     Document Type: Article

References (13)

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