A novel mutation in the SCN4A responsible for cold-induced myotonia with normal electromyography findings on room temperature

Journal of the Neurological Sciences

Volumn 308, Issue 1-2, 2011, Pages 162-164

  Bissay, Véronique ^a   Keymolen, Kathelijn ^b   Lissens, Willy ^b   Schmedding, Eric ^a   De Keyser, Jacques ^a,c  

^a VRIJE UNIVERSITEIT BRUSSEL   (Belgium)

^b UNIVERSITY HOSPITAL BRUSSELS   (Belgium)

^c UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

Author keywords

Cold aggravated; Myotonia; p.Arg1460Gln; SCN4A; Sodium channel

Indexed keywords

SODIUM CHANNEL NAV1.4;

ADULT; ARTICLE; CASE REPORT; CHILD; COLD EXPOSURE; COLD INJURY; COOLING; DISEASE EXACERBATION; DNA FLANKING REGION; ELECTROMYOGRAPHY; ELECTROPHYSIOLOGY; EXERCISE; EXON; FEMALE; FUNCTION TEST; GENE AMPLIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HUMAN; INTRON; LOW BACK PAIN; MALE; MEDICAL HISTORY; MUSCLE ACTION POTENTIAL; MUSCLE CONTRACTION; MUSCLE STIFFNESS; MUSCLE WEAKNESS; MYALGIA; MYOTONIA; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; ROOM TEMPERATURE; SCHOOL CHILD; SHORT EXERCISE TEST; SPINE SURGERY; TREATMENT FAILURE; WINTER;

ADULT; CHILD; COLD TEMPERATURE; ELECTROMYOGRAPHY; EXERCISE TEST; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; MYOTONIA; SODIUM CHANNELS;

EID: 80051598905     PISSN: 0022510X     EISSN: 18785883     Source Type: Journal    
DOI: 10.1016/j.jns.2011.06.014     Document Type: Article

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