Congenital myasthenic syndrome caused by a mutation in the Ets-binding site of the promoter region of the acetylcholine receptor ε subunit gene

Neuromuscular Disorders

Volumn 9, Issue 3, 1999, Pages 131-135

  Ohno, K ^a   Anlar, B ^b   Engel, A G ^a  

^a MAYO CLINIC   (United States)

^b HACETTEPE UNIVERSITY   (Turkey)

Author keywords

Acetylcholine receptor; Acetylcholine receptor subunit; Congenital myasthenic syndromes; erbB receptors; Ets binding site; GA binding protein; MAP kinase; Neuregulin

Indexed keywords

BINDING PROTEIN; CHOLINERGIC RECEPTOR; MITOGEN ACTIVATED PROTEIN KINASE; NEU DIFFERENTIATION FACTOR; RECEPTOR SUBUNIT;

ADOLESCENT; ARTICLE; BINDING SITE; CASE REPORT; EATON LAMBERT SYNDROME; FEMALE; GENE EXPRESSION; GENE MUTATION; HUMAN; MALE; MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROMOTER REGION; SCHOOL CHILD;

ADOLESCENT; BASE SEQUENCE; BINDING SITES; CHILD; DNA; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENE EXPRESSION; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MOTOR ENDPLATE; MUTATION; MYASTHENIA GRAVIS; PEDIGREE; POINT MUTATION; PROMOTER REGIONS (GENETICS); PROTO-ONCOGENE PROTEINS; PROTO-ONCOGENE PROTEINS C-ETS; RECEPTORS, CHOLINERGIC; SEQUENCE HOMOLOGY, NUCLEIC ACID; SYNDROME; TRANSCRIPTION FACTORS;

EID: 0032790317     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(99)00007-3     Document Type: Article

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