Pyruvate dehydrogenase E2 deficiency: a potentially treatable cause of episodic dystonia.
The association of progressive episodic dystonia and learning disability with distinctive neuroimaging findings may lead to consideration of atypical Pantothenate Kinase Associated Neurodegeneration (PKAN) and investigations directed towards that diagnosis. Recent reports indicate that deficiency of...
| Main Authors: | , , , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
2010
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