Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations

Neuromuscular Disorders

Volumn 22, Issue 4, 2012, Pages 318-324

  Wargon, I ^a   Richard, P ^a   Kuntzer, T ^b   Sternberg, D ^a   Nafissi, S ^c   Gaudon, K ^a   Lebail, A ^a   Bauche, S ^a   Hantai D ^a   Fournier, E ^a   Eymard, B ^a   Stojkovic, T ^a  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^c TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

Author keywords

Acetylcholinesterase; COLQ; Congenital myasthenic syndrome; Mutations; Relapse

Indexed keywords

3,4 DIAMINOPYRIDINE; ACETYLCHOLINESTERASE; CARNITINE; CHOLINESTERASE INHIBITOR; COMPLEMENTARY DNA; CREATINE KINASE; EPHEDRINE; ESTERASE INHIBITOR; FLUOXETINE; MESSENGER RNA; UBIDECARENONE;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; COLQ GENE; CONGENITAL MYASTHENIC SYNDROME; CONSANGUINITY; CONTROLLED STUDY; DELAYED DIAGNOSIS; DISEASE COURSE; DYSPHAGIA; ELECTROMYOGRAPHY; ETHNICITY; EXERCISE; EXON; FEMALE; FOLLOW UP; FRAMESHIFT MUTATION; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HETEROZYGOTE DETECTION; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; INTRON; LIMB DYSESTHESIA; LIPID STORAGE; LONG TERM CARE; LORDOSIS; MALE; MISSENSE MUTATION; MUSCLE ACTION POTENTIAL; MUSCLE BIOPSY; MUSCLE CRAMP; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; MYALGIA; MYOPATHY; NONSENSE MUTATION; OPHTHALMOPLEGIA; PHENOTYPE; PREGNANCY; PRESCHOOL CHILD; PRIORITY JOURNAL; PTOSIS; PUBERTY; RELAPSE; RESPIRATORY DISTRESS; RESPIRATORY TRACT DISEASE; SCHOOL CHILD; SCOLIOSIS; TESTIS DISEASE; THORAX DISEASE; TREATMENT RESPONSE;

ACETYLCHOLINESTERASE; ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; COLLAGEN; DISEASE PROGRESSION; FEMALE; FOLLOW-UP STUDIES; GENETIC ASSOCIATION STUDIES; HUMANS; MALE; MIDDLE AGED; MUSCLE PROTEINS; MUTATION; MYASTHENIC SYNDROMES, CONGENITAL; PHENOTYPE; RECURRENCE; TREATMENT OUTCOME; YOUNG ADULT;

EID: 84858797629     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2011.09.002     Document Type: Article

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