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
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author Alsemari, Abdulaziz
Al‐hindi, Hindi Nasser
author_facet Alsemari, Abdulaziz
Al‐hindi, Hindi Nasser
author_sort Alsemari, Abdulaziz
collection PubMed
description 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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spelling pubmed-47365212016-02-09 Large‐scale mitochondrial DNA deletion underlying familial multiple system atrophy of the cerebellar subtype Alsemari, Abdulaziz Al‐hindi, Hindi Nasser Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2015-11-23 /pmc/articles/PMC4736521/ /pubmed/26862402 http://dx.doi.org/10.1002/ccr3.435 Text en © 2015 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial‐NoDerivs (http://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Alsemari, Abdulaziz
Al‐hindi, Hindi Nasser
Large‐scale mitochondrial DNA deletion underlying familial multiple system atrophy of the cerebellar subtype
title Large‐scale mitochondrial DNA deletion underlying familial multiple system atrophy of the cerebellar subtype
title_full Large‐scale mitochondrial DNA deletion underlying familial multiple system atrophy of the cerebellar subtype
title_fullStr Large‐scale mitochondrial DNA deletion underlying familial multiple system atrophy of the cerebellar subtype
title_full_unstemmed Large‐scale mitochondrial DNA deletion underlying familial multiple system atrophy of the cerebellar subtype
title_short Large‐scale mitochondrial DNA deletion underlying familial multiple system atrophy of the cerebellar subtype
title_sort large‐scale mitochondrial dna deletion underlying familial multiple system atrophy of the cerebellar subtype
topic Case Reports
url 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
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