A carregar...
Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case report
BACKGROUND: Chondrodystrophic myotonia or Schwartz-Jampel syndrome is a rare genetic disorder characterized by myotonia and skeletal dysplasia. It may be progressive in nature. Recently, the gene responsible for Schwartz-Jampel syndrome has been found and the defective protein it encodes leads to ab...
Na minha lista:
| Main Authors: | , , , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2003
|
| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC166146/ https://ncbi.nlm.nih.gov/pubmed/12839625 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2377-3-3 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|