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...

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Detalles Bibliográficos
Autores principales: Ho, Nicola C, Sandusky, Stacey, Madike, Victor, Francomano, Clair A, Dalakas, Marinos C
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2003
Materias:
Case Report
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

Internet

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

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