A novel SCN4A mutation causing myotonia aggravated by cold and potassium

Human Molecular Genetics

Volumn 2, Issue 9, 1993, Pages 1349-1353

  Heine, Roland ^a   Plka, Ursula ^a   Lehmann horn, Frank ^a  

^a UNIVERSITY OF ULM   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

METHIONINE; POTASSIUM; SODIUM CHANNEL; SUXAMETHONIUM; VALINE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CELL MEMBRANE; COLD; CONTROLLED STUDY; CYTOPLASM; DNA CONFORMATION; DNA POLYMORPHISM; DNA SEQUENCE; ELECTROPHYSIOLOGY; EXON; FAMILY STUDY; FEMALE; GENE; GENE MUTATION; GENETIC CONSERVATION; GENETIC SCREENING; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; MUSCLE WEAKNESS; MYOTONIA; PERIODIC PARALYSIS; POINT MUTATION; PROTEIN DOMAIN; SKELETAL MUSCLE;

AMINO ACID SEQUENCE; BASE SEQUENCE; CASE REPORT; CHILD; COLD; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; HUMAN; MALE; MOLECULAR SEQUENCE DATA; MYOTONIA; PEDIGREE; POINT MUTATION; POLYMORPHISM (GENETICS); POTASSIUM; SODIUM CHANNELS; SUPPORT, NON-U.S. GOV'T;

EID: 0027237778     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/2.9.1349     Document Type: Article

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