Myasthenia gravis in a woman with congenital AChR deficiency due to ε-subunit mutations

Neurology

Volumn 58, Issue 10, 2002, Pages 1563-1565

  Croxen, Rebecca ^a   Vincent, Angela ^a   Newsom Davis, John ^a   Beeson, David ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLINERGIC RECEPTOR;

ADULT; ARTICLE; CHOLINERGIC RECEPTOR DEFICIENCY; FEMALE; GENE MUTATION; HUMAN; MUSCLE BIOPSY; MYASTHENIA GRAVIS; NEUROPATHOLOGY; PATHOGENESIS; POSTSYNAPTIC MEMBRANE; PRIORITY JOURNAL; PROTEIN DEFICIENCY; SCHOOL CHILD;

EID: 0037188407     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.58.10.1563     Document Type: Article

References (10)

1. Congenital myasthenic syndromes
2. Mutations affecting muscle nicotinic acetylcholine receptors and their role in congenital myasthenic syndromes
3. Myasthenia gravis
4. Clinical, pathological HLA antigen and immunological evidence for disease heterogeneity in myasthenia gravis
5. Involvement of muscle acetylcholine receptor α subunit gene (CHRNA) in susceptibility to myasthenia gravis
6. Congenital myasthenia: End-plate acetylcholine receptors and electrophysiology in five cases
7. Novel functional ε-subunit polypeptide generated by a single nucleotide deletion in acetylcholine receptor deficiency congenital myasthenic syndrome
8. A transfected human muscle cell line expressing the adult subtype of the human muscle acetylcholine receptor for diagnostic assays in myasthenia gravis
9. Myasthenia gravis: A population based epidemiological study in Cambridgeshire, England
10. Acetylcholine receptor expression in human extraocular muscles and their susceptibility to myasthenia gravis