Publication Date:
2006-08-19
Description:
Congenital myasthenic syndromes (CMSs) are a group of inherited disorders of neuromuscular transmission characterized by fatigable muscle weakness. One major subgroup of patients shows a characteristic "limb girdle" pattern of muscle weakness, in which the muscles have small, simplified neuromuscular junctions but normal acetylcholine receptor and acetylcholinesterase function. We showed that recessive inheritance of mutations in Dok-7, which result in a defective structure of the neuromuscular junction, is a cause of CMS with proximal muscle weakness.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Beeson, David -- Higuchi, Osamu -- Palace, Jackie -- Cossins, Judy -- Spearman, Hayley -- Maxwell, Susan -- Newsom-Davis, John -- Burke, Georgina -- Fawcett, Peter -- Motomura, Masakatsu -- Muller, Juliane S -- Lochmuller, Hanns -- Slater, Clarke -- Vincent, Angela -- Yamanashi, Yuji -- G117/490/Medical Research Council/United Kingdom -- New York, N.Y. -- Science. 2006 Sep 29;313(5795):1975-8. Epub 2006 Aug 17.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Neurosciences Group, Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DS, UK. dbeeson@hammer.imm.ox.ac.uk〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/16917026" target="_blank"〉PubMed〈/a〉
Keywords:
Cell Line
;
Cells, Cultured
;
Female
;
*Frameshift Mutation
;
Genes, Recessive
;
Humans
;
Male
;
Muscle Fibers, Skeletal/metabolism
;
Muscle Proteins/*genetics/physiology
;
Muscle Weakness/physiopathology
;
Mutation
;
Myasthenic Syndromes, Congenital/*genetics/pathology/physiopathology
;
Neuromuscular Junction/*pathology/*physiopathology
;
Pedigree
;
Polymerase Chain Reaction
;
Receptor Protein-Tyrosine Kinases/physiology
;
Receptors, Cholinergic/metabolism/physiology
;
Sequence Analysis, DNA
;
Synaptic Transmission
Print ISSN:
0036-8075
Electronic ISSN:
1095-9203
Topics:
Biology
,
Chemistry and Pharmacology
,
Computer Science
,
Medicine
,
Natural Sciences in General
,
Physics
