Clinical characteristics of a group of Turkish patients having a benign CMS phenotype with ptosis and marked ophthalmoparesis and mutations in the acetylcholine receptor epsilon subunit gene

Acta Myologica

Volumn 19, Issue SEPT., 2000, Pages 81-85

  Deymeer, F ^a   Serdaroglu, P ^a   Gulsen Parman, Y ^a   Ozturk, A ^a   Ozdemir, C ^a  

^a ISTANBUL UNIVERSITY   (Turkey)

Author keywords

Congenital myasthenic syndromes; Epsilon subunit mutations; Ophthalmoparesis

Indexed keywords

ACETYLCHOLINE RECEPTOR EPSILON; CHOLINERGIC RECEPTOR; RECEPTOR SUBUNIT; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CHOLINERGIC SYSTEM; CLINICAL ARTICLE; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; DIPLOPIA; DISEASE SEVERITY; FACE MUSCLE; FEMALE; FLEXOR MUSCLE; GENE MUTATION; HAND MUSCLE; HUMAN; MALE; MYASTHENIA; MYASTHENIA GRAVIS; NERVE STIMULATION; OPHTHALMOPLEGIA; PHENOTYPE; PTOSIS; SCHOOL CHILD; TURKEY (REPUBLIC);

EID: 0033794170     PISSN: 11282460     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (18)

1. Myasthenic syndromes
2. Clinical syndromes of myasthenia in infancy and childhood. A review
3. A genetic study of infantile and juvenile myasthenia gravis
4. The investigation of congenital myasthenic syndromes
5. Congenital myasthenic syndromes: Recent advances
6. Clinical and experimental observations in patients with congenital myasthenic syndromes
7. Congenital myasthenic syndromes
8. End-plate acetylcholine receptor deficiency due to nonsense mutations in the epsilon subunit
9. Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor epsilon subunit gene: Identification and functional characterization of six new mutations
10. Myasthenic syndromes in Turkish kinships due to mutations in the acetylcholine receptor
11. Novel functional epsilon-subunit polypeptide generated by a single nucleotide deletion in acetylcholine receptor deficiency congenital myasthenic syndrome
12. A common mutation (epsilon 1267delG) in congenital myasthenic patients of Gypsy ethnic origin
13. Chromosome 17p-linked myasthenias stem from defects in the acetylcholine receptor epsilon-subunit gene
14. Mode switching kinetics produced by a naturally occurring mutation in the cytoplasmic loop of the human acetylcholine receptor epsilon subunit
15. Distribution of muscle weakness in myasthenia gravis
16. Myasthenia gravis in infancy
17. Acetylcholine receptor antibodies in juvenile myasthenia gravis