(mentions CMT) Neuromuscular Disease Models and Analysis

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Methods Mol Biol. 2010;602:347-393

Neuromuscular Disease Models and Analysis.

Burgess RW, GA, Seburn KL.

The Laboratory, Bar Harbor, ME, USA.

Neuromuscular diseases can affect the survival of peripheral neurons, their

axons extending to peripheral targets, their synaptic connections onto those

targets, or the targets themselves. Examples include motor neuron diseases such

as amyotrophic lateral sclerosis, peripheral neuropathies, such as

Charcot-Marie-Tooth diseases, myasthenias, and muscular dystrophies.

Characterizing these phenotypes in mouse models requires an integrated approach,

examining both the nerve and the muscle histologically, anatomically, and

functionally by electrophysiology.

Defects observed at these levels can be related back to onset, severity, and

progression, as assessed by " quality-of-life measures " including tests of gross

motor performance such as gait or grip strength. This chapter describes methods

for assessing neuromuscular disease models in mice, and how interpretation of

these tests can be complicated by the inter-relatedness of the phenotypes.