Mutation in the S4 segment of the adult skeletal sodium channel gene in an Italian Paramyotonia Congenita (PC) family

The Italian Journal of Neurological Sciences

Volumn 15, Issue 9, 1994, Pages 473-480

  Sansone, V ^a   Rotondo, G ^a   Ptacek, L J ^b   Meola, G ^a  

^a UNIVERSITY OF MILAN   (Italy)

^b UNIVERSITY OF UTAH   (United States)

Author keywords

mexiletine; mutation; myotonia; paramyotonia congenita; sodium channel

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CLINICAL TRIAL; ELECTROMYOGRAPHY; FEMALE; GENETIC POLYMORPHISM; GENETICS; HUMAN; ITALY; MALE; METABOLISM; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; PHENOTYPE; SKELETAL MUSCLE; SODIUM CHANNEL; THOMSEN DISEASE;

ADULT; BASE SEQUENCE; CASE REPORT; ELECTROMYOGRAPHY; FEMALE; HUMAN; ITALY; MALE; MIDDLE AGE; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; MUTATION; MYOTONIA CONGENITA; PEDIGREE; PHENOTYPE; POLYMORPHISM (GENETICS); SODIUM CHANNELS; SUPPORT, NON-U.S. GOV'T;

EID: 0028692145     PISSN: 03920461     EISSN: 15903478     Source Type: Journal    
DOI: 10.1007/BF02334608     Document Type: Article

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