Neuromuscular Disorders

Overview

We study diseases that affect neuromuscular transmission, with the major focus on mutations of muscle acetylcholine receptors (AChR) and of proteins that govern synaptic structure.

Research

The neuromuscular synapse is both well understood and accessible for study. Functional analysis of mutations at the molecular level can be directly correlated with measurements of defective synaptic transmission in vivo and with the clinical features of the patients.

The work ranges from the studies of single channels, through to animal models of disease, to phenotypic characterisation of patients. It provides translational research of bedside to bed and back, with the bench research generating data directly relevant to patient treatment regimes. Moreover, a detailed knowledge of inherited dysfunction of neuromuscular transmission forms a paradigm for investigation of other neurological syndromes that may result from defective synaptic transmission in the CNS.