Dok-7 mutations underlie a neuromuscular junction synaptopathy.

Journal article

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 neuromuscul...

Expand abstract

Authors: Beeson, D; Higuchi, O; Palace, J; Cossins, J; Spearman, H

• Publication status: Published
• Journal: Science (New York, N.Y.)
• Volume: 313
• Issue: 5795
• Pages: 1975-1978
• Publication date: 2006-09-01
• DOI: 10.1126/science.1130837
• EISSN: 1095-9203
• ISSN: 0036-8075
• Language: English
• Keywords: Muscle Proteins; Synaptic Transmission; Polymerase Chain Reaction; Receptor Protein-Tyrosine Kinases; Myasthenic Syndromes, Congenital; Mutation; Male; Pedigree; Cells, Cultured; Frameshift Mutation; Muscle Fibers, Skeletal; Muscle Weakness; Cell Line; Sequence Analysis, DNA; Receptors, Cholinergic; Humans; Neuromuscular Junction; Female; Genes, Recessive