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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Detalles Bibliográficos
Autores principales: Alsemari, Abdulaziz, Al‐hindi, Hindi Nasser
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2015
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4736521/
https://www.ncbi.nlm.nih.gov/pubmed/26862402
http://dx.doi.org/10.1002/ccr3.435
Descripción
Sumario: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.

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