Congenital myasthenic syndrome due to a novel missense mutation in the gene encoding choline acetyltransferase

Neuromuscular Disorders

Volumn 13, Issue 3, 2003, Pages 245-251

  Schmidt, Carolin ^a   Abicht, Angela ^a   Krampfl, Klaus ^b   Voss, Wolfgang ^b   Stucka, Rolf ^a   Mildner, Gina ^a   Petrova, Sofia ^a   Schara, Ulrike ^c   Mortier, Wilhelm ^c   Bufler, Johannes ^b   Huebner, Angela ^d   Lochmüller, Hanns ^a  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b HANNOVER MEDICAL SCHOOL   (Germany)

^c RUHR UNIVERSITY BOCHUM   (Germany)

^d DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

Author keywords

CHAT mutation; Choline acetyltransferase; Congenital myasthenic syndrome; Episodic apnea

Indexed keywords

CHOLINE ACETYLTRANSFERASE;

ADOLESCENT; ALLELE; APNEA; ARTICLE; CHILD; CLINICAL FEATURE; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; DISEASE ACTIVITY; DISEASE COURSE; DISEASE SEVERITY; FAMILY; FEMALE; GENETIC CODE; HAPLOTYPE; HOMOZYGOSITY; HUMAN; LIVER CELL CARCINOMA; MALE; MISSENSE MUTATION; MUSCLE FATIGUE; MUSCLE WEAKNESS; MYASTHENIA GRAVIS; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PTOSIS; TURKEY (REPUBLIC);

EID: 0037373639     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/s0960-8966(02)00273-0     Document Type: Article

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