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Key Clinical Message  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 mt DNA  deletion, m.3264_1607del12806 bp.

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