Recurrent COLQ mutation in congenital myasthenic syndrome

Pediatric Neurology

Volumn 46, Issue 4, 2012, Pages 253-256

  Guven, Alev ^a   Demirci, Mehmet ^b   Anlar, Banu ^b  

^a Ankara Pediatric Disease Hematology and Oncology Training and Research Hospital   (Turkey)

^b HACETTEPE UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

3,4 DIAMINOPYRIDINE; COLLAGEN LIKE TAIL PROTEIN; EPHEDRINE; PROTEIN; PYRIDOSTIGMINE; SALBUTAMOL; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; BLOOD OXYGEN TENSION; BRONCHOPNEUMONIA; CHILD; CLINICAL ARTICLE; COMA; CONGENITAL MYASTHENIC SYNDROME; DISEASE SEVERITY; DYSPHAGIA; EYE MOVEMENT DISORDER; FATIGUE; FEMALE; FOLLOW UP; GENE MUTATION; GENOTYPE; HUMAN; MALE; MUSCLE HYPOTONIA; MUSCLE STRENGTH; NERVE STIMULATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PTOSIS; RESPIRATORY FAILURE; SCHOOL CHILD; SCOLIOSIS; TENDON REFLEX; WALKING DIFFICULTY; WEIGHT REDUCTION; WHEELCHAIR;

4-AMINOPYRIDINE; ACETYLCHOLINESTERASE; ADOLESCENT; CHILD; COLLAGEN; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; INFANT; MALE; MUSCLE PROTEINS; MUTATION; MYASTHENIC SYNDROMES, CONGENITAL; POTASSIUM CHANNEL BLOCKERS;

EID: 84859530767     PISSN: 08878994     EISSN: 18735150     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2012.02.003     Document Type: Article

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