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Schwartz–Jampel syndrome
Rare genetic condition of muscle and cartilage / From Wikipedia, the free encyclopedia
Schwartz–Jampel syndrome (SJS, also known as chondrodystrophic myotonia) is a rare genetic disease caused by a mutation in the perlecan gene (HSPG2)[1] which causes osteochondrodysplasia associated with myotonia.[2] Most people with Schwartz–Jampel syndrome have a nearly normal life expectancy.[3]
Quick Facts Other names, Specialty ...
Schwartz–Jampel syndrome | |
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Other names | Chondrodystrophic myotonia |
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Schwartz–Jampel syndrome is inherited in an autosomal recessive manner. | |
Specialty | Orthopedic |
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