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Large‐scale mitochondrial DNA deletion underlying familial multiple system atrophy of the cerebellar subtype

A family with mitochondrial inheritance of multiple system atrophy of the cerebellar subtype. MRI brain shows significant cerebellar atrophy with mild pontine atrophy and the classical hot cross bun sign in Pons. The muscle biopsy was indicative of mitochondrial myopathy. Mitochondrial DNA analysis...

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Foilsithe in:Clin Case Rep
Main Authors: Alsemari, Abdulaziz, Al‐hindi, Hindi Nasser
Formáid: Artigo
Teanga:Inglês
Foilsithe: John Wiley and Sons Inc. 2015
Ábhair:
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4736521/
https://ncbi.nlm.nih.gov/pubmed/26862402
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.435
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