Genetic linkage evidence for heterogeneity in Charcot-Marie-Tooth neuropathy (HMSN type I)
β Scribed by Dr. T. D. Bird; J. Ott; E. R. Giblett; P. F. Chance; S. M. Sumi; G. H. Kraft
- Book ID
- 102706062
- Publisher
- John Wiley and Sons
- Year
- 1983
- Tongue
- English
- Weight
- 980 KB
- Volume
- 14
- Category
- Article
- ISSN
- 0364-5134
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## Abstract A patient with Ewing's sarcoma and demyelinating type CharcotβMarieβTooth disease (CMT) developed severe neuropathy after receiving a total vincristine dose of 6 mg. Recovery was slow and incomplete. A second patient with axonal type CMT developed moderate neuropathy but tolerated exten
Five Italian families with recurrence of cases of Charcot-Marie-Tooth disease (type Ia) were analysed using three closely linked DNA probes that detect polymorphisms in the region 17p11.2. The probe pVAW409R3 detected the presence of a duplication in all the affected subjects, but not in the subject