title: Large-scale mitochondrial DNA deletion underlying familial multiple system atrophy of the cerebellar subtype.
abstract: 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 revealed a low-level large mtDNA deletion, m.3264_1607del12806 bp.
authors: Department of Neurosciences King Faisal Specialist Hospital and Research Centre PO box 3354 Riyadh 11211 Saudi Arabia.
authors: Abdulaziz
authors: A
authors: Alsemari
authors: Department of Pathology and Laboratory Medicine King Faisal Specialist Hospital and Research Centre PO box 3354 Riyadh 11211 Saudi Arabia.
authors: Hindi Nasser
authors: HN
authors: Al-Hindi
keywords: ataxia; cerebellar atrophy; hot cross bun sign; mitochondrial deletions; multiple system atrophy; pontine atrophy