Frameshifting and splice-site mutations in the acetylcholine receptor ε subunit gene in three Turkish kinships with congenital myasthenic syndromes

Annals of the New York Academy of Sciences

Volumn 841, Issue , 1998, Pages 189-194

  Ohno, Kinji ^a   Anlar, Banu ^b   Özdirim, Emire ^b   Brengman, Joan M ^a   Engel, Andrew G ^a,c  

^a Muscle Research Laboratory   (United States)

^b MAYO CLINIC   (United States)

^c HACETTEPE UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLINERGIC RECEPTOR; DNA;

ADOLESCENT; ADULT; CASE REPORT; CONFERENCE PAPER; DISSOCIATION CONSTANT; DNA SEQUENCE; ELECTROMYOGRAM; EXON; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; HUMAN; MOLECULAR GENETICS; MYASTHENIA; RECEPTOR GENE; SCHOOL CHILD; STOP CODON; TURKEY (REPUBLIC);

EID: 0031926819     PISSN: 00778923     EISSN: None     Source Type: Book Series    
DOI: 10.1111/j.1749-6632.1998.tb10926.x     Document Type: Conference Paper

References (5)

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2. SINE, S. & P. TAYLOR. 1979. Functional consequences of agonist-mediated state transitions in the cholinergic receptor: studies in cultured muscle cells. J. Biol. Chem. 254: 3315-3325.
3. CHRISTODOULOU, K., M. TSINGIS, F. DEYMEER, P. SERDAROGLU, C. OZDEMIR, A. ALSHEHAB, C. BAIRACTARIS, I. MAVROMATIS, I. MYLONAS, A. EVOLI, K. KYRIALLIS & L. T. MIDDLETON. 1997. Mapping of the familial infantile myasthenia (congenital myasthenic syndrome type Ia) gene to chromosome 17p with evidence of genetic homogeneity. Hum. Mol. Genet. 6: 635-640.
4. COLLINS, A., J. FREZAL, J. TEAGUE & N. E. MORTON. 1996. A metric map of humans: 23,500 loci in 850 bands. Proc. Natl. Acad. Sci. U.S.A. 93: 14771-14775.
5. KRAWCZAK, M. & D. N. COOPER. 1991. Gene deletions causing human genetic disease: mechanisms of mutagenesis and the role of the local DNA sequence environment. Hum. Genet. 86: 425-441.