Related Experiment Video
Updated: Sep 22, 2025

In Vivo Electrophysiological Measurement of Compound Muscle Action Potential from the Forelimbs in Mouse Models of Motor Neuron Degeneration
Published on: June 15, 2018
Neurological update: hereditary neuropathies
Caroline Kramarz1, Alexander M Rossor2
1Department of Neuromuscular Disease, Queen Square UCL Institute of Neurology and the National Hospital of Neurology and Neurosurgery, London, WC1N 3BG, UK.
Abstract:
In this update, we review the recent discovery of autosomal recessive variants in sorbitol dehydrogenase as one of the commonest and potentially treatable causes of hereditary motor neuropathy and CMT2. We also report on recent therapeutic advances in hereditary neuropathy including the use of lipid nanoparticle sequestered antisense oligonucleotides in CMT1A and lipid nanoparticle delivered CRISPR-Cas9 gene editing in ATTR amyloidosis.
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