Problems in physical therapy and rehabilitation in Schwartz-Jampel syndrome: case study
Schwartz-Jampel syndrome (SJS) is a rare genetic disorder characterised by myotonia and bone dysplasia. It is inherited as an autosomal recessive trait and caused by mutations in the gene encoding perlecan (HSPG2). Its symptoms include muscular stiffness and hypertrophy. The aim of the study was to...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
Termedia Publishing House
2015-01-01
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| Series: | Studia Medyczne |
| Subjects: | |
| Online Access: | http://www.termedia.pl/Problems-in-physical-therapy-and-rehabilitation-in-Schwartz-Jampel-syndrome-case-study,67,24247,1,1.html |