Abstract
Charcot-Marie-Tooth disease caused by mutations of the myelin protein zero gene demonstrates considerable phenotypical variability. We describe a 45-year-old female with a peripheral neuropathy with demyelinating and axonal features, pes cavus and pupillary light-near dissociation. She was heterozygous for two mutations in the myelin protein zero gene (His81Tyr and Val113Phe), both present on the same allele. Our patient shows a less severe phenotype than previously described patients with a His81Arg mutation. Multiple mutations in the myelin protein zero gene, as well as Charcot-Marie-Tooth with pupillary abnormalities have previously been described in rare instances. However, concurrent occurrence of both phenomena is a novel finding. (C) 2002 Elsevier Science B.V. All rights reserved
Original language | English |
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Pages (from-to) | 281-285 |
Journal | Neuromuscular disorders |
Volume | 12 |
Issue number | 3 |
DOIs | |
Publication status | Published - 2002 |