Open AccessLarge‐scale mitochondrial DNA deletion underlying familial multiple system atrophy of the cerebellar subtype
Author(s) -
Alsemari Abdulaziz,
Alhindi Hindi Nasser
Publication year - 2016
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.435
Subject(s) - atrophy , mitochondrial dna , pons , muscle biopsy , medicine , pathology , cerebellum , muscle atrophy , mitochondrial encephalomyopathies , mitochondrial myopathy , genetics , biology , biopsy , anatomy , gene
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.