Recessive Charcot-Marie-Tooth disease
β Scribed by James R. Lupski
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 219 KB
- Volume
- 47
- Category
- Article
- ISSN
- 0364-5134
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Charcot-Marie-Tooth disease (CMT; Hereditary Motor and Sensory Neuropathy, HMSN), the most common genetic neuropathy, with an incidence of 1/2600 in Norway (Skre, 1974), has been reported in individuals on every continent. The multiple CMT disease categories result from mutations in at least eight d
This novel finding is the first to address androgens in pediatric stroke and is consistent with the rather sparse literature that androgens impact ischemic outcomes and mechanisms of brain damage. 7,[12][13][14][15][16] In contrast, low circulating testosterone levels are associated with higher stro
Two sisters with a Charcot-Marie-Tooth disease type 1A (CMT1A) duplication, who had an unusual CMT1A clinical phenotype, are described. The 63-year-old proband presented with dysesthesia on the inner side of the right leg. Neurological examination revealed a localized sensory disturbance in the lowe