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Intermediate Charcot-Marie-Tooth disease due to a novel Trp101Stop myelin protein zero mutation associated with debilitating neuropathic pain.

Abstract:

We report an English kindred affected across 4 generations with a hereditary neuropathy associated with debilitating neuropathic pain as the main clinical feature. The principal finding on clinical examination was sensory loss, and there was variable motor dysfunction. Electrophysiological studies revealed mild features of demyelination with median conduction velocity in the intermediate range. There was an autosomal-dominant pattern of inheritance, and genetic testing revealed a novel hetero...

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Publisher copy:
10.1016/j.pain.2012.05.015

Authors


Ramirez, JD More by this author
Barnes, PR More by this author
Bennett, DL More by this author
Journal:
Pain
Volume:
153
Issue:
8
Pages:
1763-1768
Publication date:
2012-08-05
DOI:
EISSN:
1872-6623
ISSN:
0304-3959
URN:
uuid:cba16728-c705-4e65-bb63-a201276fb2fa
Source identifiers:
365739
Local pid:
pubs:365739

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