CINECA IRIS Institutional Research Information System
IRIS è la soluzione IT che facilita la raccolta e la gestione dei dati relativi alle attività e ai prodotti della ricerca. Fornisce a ricercatori, amministratori e valutatori gli strumenti per monitorare i risultati della ricerca, aumentarne la visibilità e allocare in modo efficace le risorse disponibili.
EnglishA close association was noted between palmoplantar keratoderma (PPK) and Charcot-Marie-Tooth disease (CMT) in nine members of a family in five generations. Clinical, genealogic, electroneurophysiologic, chromosome, urinary amino acid, and histopathologic studies were performed to define the two entities. Charco-Marie-Tooth disease occurred with advancing age in all of the members with PPK, but in none without PPK. Palmoplantar keratoderma and CMT appear to be genetically associated and transmitted as an autosomal dominant trait. This is the first report, to our knowledge, of an association between PPK and CMT.
Scheda prodotto non validato
Attenzione! I dati visualizzati non sono stati sottoposti a validazione da parte dell'ateneo
| Titolo: | Palmoplantar keratoderma and Charcot-Marie-Tooth disease. |
| Autori: | |
| Data di pubblicazione: | 1980 |
| Rivista: | |
| Abstract: | A close association was noted between palmoplantar keratoderma (PPK) and Charcot-Marie-Tooth disease (CMT) in nine members of a family in five generations. Clinical, genealogic, electroneurophysiologic, chromosome, urinary amino acid, and histopathologic studies were performed to define the two entities. Charco-Marie-Tooth disease occurred with advancing age in all of the members with PPK, but in none without PPK. Palmoplantar keratoderma and CMT appear to be genetically associated and transmitted as an autosomal dominant trait. This is the first report, to our knowledge, of an association between PPK and CMT. |
| Handle: | http://hdl.handle.net/11571/467361 |
| Appare nelle tipologie: | 1.1 Articolo in rivista |
File in questo prodotto:
Copyright © 2020