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The most frequent inherited peripheral neuropathy is the peripheral myelin protein 22 (PMP22) gene related disease. Duplication, deletion, and point mutations in that gene are associated with phenotypic variability. Here we report a family carrying a novel mutation in the PMP22 gene (c. 327C>A), which results in a premature stop codon (Cys109stop). The family members who carry this mutation have...
A patient accidentally exposed to oven microwaves developed an acute and severe dystrophy and sympathetic reflex of the right hand, a peripheral neuropathy of the digits of the left hand, and a sensory injury of the trigeminal nerve in the right side of the face. The physiopathological involvement in the injury of the peripheral nerve and the failure of analgesia with carbamazepine are emphasized...
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