| Автор | Warner, Laura E. |
| Автор | Garcia, MD, Carlos A. |
| Автор | Lupski, MD, PhD, James R. |
| Дата выпуска | 1999 |
| dc.description | ▪ Abstract Hereditary peripheral neuropathies, among the most common genetic disorders in humans, are a complex, clinically and genetically heterogeneous group of disorders that produce progressive deterioration of the peripheral nerves. This group of disorders includes hereditary neuropathy with liability to pressure palsies, Charcot-Marie-Tooth disease, Dejerine-Sottas syndrome, and congenital hypomyelinating neuropathy. Our understanding of these disorders has progressed from the description of the clinical phenotypes and delineation of the electrophysiologic and pathologic features to the identification of disease genes and elucidation of the underlying molecular mechanisms. |
| Формат | application.pdf |
| Издатель | Annual Reviews |
| Копирайт | Annual Reviews |
| Название | HEREDITARY PERIPHERAL NEUROPATHIES: Clinical Forms, Genetics, and Molecular Mechanisms |
| DOI | 10.1146/annurev.med.50.1.263 |
| Print ISSN | 0066-4219 |
| Журнал | Annual Review of Medicine |
| Том | 50 |
| Первая страница | 263 |
| Последняя страница | 275 |
| Аффилиация | Warner, Laura E.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030; e-mail: lw691038@bcm.tmc.edu |
