| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 3060545 | Journal of Clinical Neuroscience | 2013 | 5 Pages |
Abstract
Schwartz Jampel syndrome is a rare neuromuscular disorder with autosomal recessive inheritance characterized by myotonia, distinctive facial features including blepharospasm and a puckered chin, short stature and skeletal dysplasia. We report six Indian children with this disorder presenting with different clinical manifestations.
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Neurology
Authors
Ravindra Arya, Suvasini Sharma, Neerja Gupta, Sushil Kumar, Madhulika Kabra, Sheffali Gulati,