Synaptic congenital myasthenic syndrome in three patients due to a novel missense mutation (T441A) of the COLQ gene

Neuropediatrics

Volumn 35, Issue 3, 2004, Pages 183-189

  Muller J S ^a   Petrova, S ^a   Kiefer, R ^b   Stucka, R ^a   Konig C ^a   Baumeister, S K ^a   Huebner, A ^c   Lochmüller, Hanns ^a,d   Abicht, A ^a  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b UNIVERSITY OF MÜNSTER   (Germany)

^c DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^d Genzentrum München ^*  (Germany)

Author keywords

Acetylcholinesterase (AChE); Collagenic tail of endplate acetylcholinesterase (ColQ); COLQ mutation; Congenital myastenic syndrome (CMS); Endplate acetylcholinesterase deficiency (EAD)

Indexed keywords

ACETYLCHOLINESTERASE; CHOLINE ACETYLTRANSFERASE; CHOLINERGIC RECEPTOR; COLLAGEN; GENOMIC DNA; RNA;

ADULT; AMINO ACID SEQUENCE; ANTIBODY TITER; ARTICLE; CASE REPORT; COLQ GENE; DISEASE COURSE; DISEASE SEVERITY; ELECTROMYOGRAPHY; FAMILY HISTORY; FEMALE; GENE; GENE MUTATION; GENOTYPE; HAPLOTYPE; HUMAN; MALE; MISSENSE MUTATION; MYASTHENIA; NUCLEOTIDE SEQUENCE; ONSET AGE; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

ACETYLCHOLINESTERASE; COLLAGEN; FEMALE; HUMANS; MALE; MIDDLE AGED; MUSCLE PROTEINS; MUTATION, MISSENSE; MYASTHENIC SYNDROMES, CONGENITAL; PEDIGREE; PHENOTYPE;

EID: 3242721402     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2004-820996     Document Type: Article

References (16)

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