Friedreich's Ataxia – A Clinical Diagnosis
Friedreich's ataxia (FA) is an autosomal recessive spinocerebellar degenerative disease characterized by hyperexpansion of GAA triplets in Frataxin gene. The hallmark of this disorder is ataxic gait, areflexia, Babinski's sign and positive Romberg test. We report a 9 year old child who presente...
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| Autors principals: | , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Krishna Vishwa Vidyapeeth (Deemed to be University), Karad
2015-01-01
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| Col·lecció: | Journal of Krishna Institute of Medical Sciences University |
| Matèries: | |
| Accés en línia: | http://jkimsu.com/jkimsu-vol4no1/JKIMSU,%20Vol.%204,%20No.%201,%20Jan-Mar%202015%20Page%20139-141.pdf |
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