Toby A Ferguson, The Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania, USA
David R Lynch, The Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania, USA
Published online: May 2008
DOI: 10.1002/9780470015902.a0005513
Inherited neuromuscular disease encompasses a broad array of diseases afflicting many people at all stages of life. The main categories of inherited neuromuscular disease are diseases of peripheral nerve (neuropathy), diseases of muscle (myopathy and dystrophy) and diseases of spinal cord motoneurons (motor neuron disease).
Keywords: neuropathy; myopathy; amyotrophic lateral sclerosis; demyelination
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Figure 1. Illustration of some proteins mutated in Charcot–Marie–Tooth disease. The cellular localization of the proteins is indicated and possible function is given in parentheses. EGR2, early growth response 2; KIF1B-, kinesin family member 1B-; PMP-22, peripheral myelin protein 22 and RAB7, Ras-associated protein 7.
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Figure 2. Illustration of some proteins mutated in motor neuron disease. The cellular localization of the proteins is indicated and possible function is given in parentheses. SMN, survival motor neuron; IGHMBP2, immunoglobulin mu-binding protein 2; SOD1, superoxide dismutase 1 and VAPB, vesicle-associated membrane protein-associated protein B.
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| Further Reading | |
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