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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...
| Autores principales: | , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2003
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC166146/ https://www.ncbi.nlm.nih.gov/pubmed/12839625 http://dx.doi.org/10.1186/1471-2377-3-3 |