Choline acetyltransferase mutations in myasthenic syndrome due to deficient acetylcholine resynthesis

Muscle and Nerve

Volumn 27, Issue 2, 2003, Pages 180-187

  Maselli, Ricardo A ^a   Chen, Darlene ^a   Mo, Delores ^a   Bowe, Constance ^a   Fenton, Grace ^a   Wollmann, Robert L ^b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF CHICAGO   (United States)

Author keywords

Acetylcholine; CHAT; Congenital myasthenic syndrome; Presynaptic temperature sensitive myasthenia

Indexed keywords

ACETYLCHOLINE; CHOLINE ACETYLTRANSFERASE; PYRIDOSTIGMINE;

ADOLESCENT; APNEA; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE COURSE; ELECTRODIAGNOSIS; ELECTRON MICROSCOPY; ENZYME ACTIVITY; FEMALE; GENE MUTATION; GENETIC CODE; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; MALE; MICROELECTRODE; MUSCLE BIOPSY; MYASTHENIA; NEUROMUSCULAR SYNAPSE; NEUROMUSCULAR TRANSMISSION; PRIORITY JOURNAL; QUANTITATIVE ASSAY; RECESSIVE INHERITANCE; RECURRENT DISEASE; TEMPERATURE DEPENDENCE;

ACETYLCHOLINE; ADOLESCENT; BIOPSY; BUNGAROTOXINS; CHILD; CHILD, PRESCHOOL; CHOLINE O-ACETYLTRANSFERASE; DNA MUTATIONAL ANALYSIS; ELECTROMYOGRAPHY; FEMALE; HETEROZYGOTE; HUMANS; IODINE RADIOISOTOPES; MALE; MICROSCOPY, ELECTRON; MUSCLE FIBERS, SLOW-TWITCH; MUSCLE, SKELETAL; MUTATION, MISSENSE; MYASTHENIC SYNDROMES, CONGENITAL; NEURAL CONDUCTION;

EID: 0037308305     PISSN: 0148639X     EISSN: None     Source Type: Journal    
DOI: 10.1002/mus.10300     Document Type: Article

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