Salbutamol therapy in congenital myasthenic syndrome due to DOK7 mutation

Journal of the Neurological Sciences

Volumn 331, Issue 1-2, 2013, Pages 155-157

  Lorenzoni, Paulo J ^a   Scola, Rosana H ^a   Kay, Cláudia S K ^a   Filla, Luciane ^a   Miranda, Anna P P ^a   Pinheiro, João M R ^a   Chaouch, Amina ^b   Lochmüller, Hanns ^b   Werneck, Lineu C ^a  

^a FEDERAL UNIVERSITY OF PARANÁ   (Brazil)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

Albuterol; Congenital myasthenic syndromes; DOK7 mutation; Limb girdle congenital myasthenic syndrome; Salbutamol; Treatment

Indexed keywords

ADAPTOR PROTEIN; ARGININE; DOK7 PROTEIN; GLYCINE; LEUCINE; PYRIDOSTIGMINE; SALBUTAMOL; SERINE; UNCLASSIFIED DRUG;

6 MINUTE WALK TEST; ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; CLINICAL ASSESSMENT; CONGENITAL MYASTHENIC SYNDROME; CONTROLLED STUDY; DRUG EFFICACY; DRUG INDUCED HEADACHE; DRUG TOLERABILITY; FEMALE; FOLLOW UP; GENE DUPLICATION; GENE EXPRESSION; GENE MUTATION; HEART PALPITATION; HUMAN; LEG MOVEMENT; MALE; NEUROPSYCHOLOGICAL TEST; PRIORITY JOURNAL; QMG SCORE; SCORING SYSTEM; SUPINE POSITION; TREATMENT DURATION; TREATMENT OUTCOME; TREATMENT RESPONSE; TREMOR;

EID: 84882453352     PISSN: 0022510X     EISSN: 18785883     Source Type: Journal    
DOI: 10.1016/j.jns.2013.05.017     Document Type: Article

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