Article
Defective presynaptic choline transport underlies hereditary motor neuropathy.
American journal of human genetics - 7 Dec 2012
Barwick Katy E S, Wright Jane, Al-Turki Saeed, McEntagart Meriel M, Nair Ajith, Chioza Barry, Al-Memar Ali, Modarres Hamid, Reilly Mary M, Dick Katherine J, Ruggiero Alicia M, Blakely Randy D, Hurles Matt E, Crosby Andrew H
Abstract excerpt
The neuromuscular junction (NMJ) is a specialized synapse with a complex molecular architecture that provides for reliable transmission between the nerve terminal and muscle fiber. Using linkage analysis and whole-exome sequencing of DNA samples from subjects with distal hereditary motor neuropathy type VII, we identified a mutation in SLC5A7, which encodes the presynaptic choline transporter (CHT), a critical...
Topics
- Adult
- Female
- Humans
- Male
- Middle Aged
- Motor Neuron Disease
- Pedigree
- Phenotype
- Presynaptic Terminals
- Symporters