Late onset painful cold-aggravated myotonia: Three families with SCN4A L1436P mutation

Neuromuscular Disorders

Volumn 21, Issue 8, 2011, Pages 590-593

  Bissay, Véronique ^a   Keymolen, Kathelijn ^a   Lissens, Willy ^a   Laureys, Guy ^a   Schmedding, Eric ^a   Keyser, Jacques De ^a  

^a UNIVERSITY HOSPITAL BRUSSELS   (Belgium)

Author keywords

Cold aggravated; L1436P; Myotonia; SCN4A; Sodium channel

Indexed keywords

ACETAZOLAMIDE; AMITRIPTYLINE; CARBAMAZEPINE; SODIUM CHANNEL NAV1.4;

ALLERGIC RASH; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; COLD EXPOSURE; COLD SENSITIVITY; DISEASE SEVERITY; DRUG WITHDRAWAL; GENE; GENE MUTATION; GENE SEQUENCE; HUMAN; MUSCLE HYPERTROPHY; MYALGIA; MYOTONIA; NEUROLOGIC EXAMINATION; NUCLEOTIDE SEQUENCE; ONSET AGE; OUTCOME ASSESSMENT; PAIN ASSESSMENT; PHENOTYPE; PRIORITY JOURNAL; SCN4A GENE; SODIUM CHANNELOPATHY; STRESS;

ACETAZOLAMIDE; ADULT; AGE OF ONSET; AGED; AGED, 80 AND OVER; AMITRIPTYLINE; ANTICONVULSANTS; BELGIUM; CARBAMAZEPINE; COLD TEMPERATURE; ELECTROMYOGRAPHY; FEMALE; HUMANS; MALE; MIDDLE AGED; MUTATION; MYOTONIA; PAIN; PHENOTYPE; SODIUM CHANNELS; TREATMENT OUTCOME;

EID: 79960909424     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2011.05.006     Document Type: Article

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