Mitochondrial mimicry of multiple system atrophy of the cerebellar subtype.
BACKGROUND: We describe a patient with clinical and radiological findings suggestive of multiple system atrophy of the cerebellar subtype (MSA-C). METHODS/RESULTS: Sequencing of the polymerase-γ 1 (POLG1) gene revealed the patient had compound heterozygous mutations of the POLG1 gene. Muscle biopsy...
Main Authors: | Mehta, A, Fox, S, Tarnopolsky, M, Yoon, G |
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Format: | Journal article |
Language: | English |
Published: |
2011
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