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NARP Syndrome: A 20-Year Follow-Up

One member of a pedigree with NARP syndrome (neurogenic weakness, ataxia, and retinitis pigmentosa), a mitochondrial disorder due to a point mutation at position 8993 in the mitochondrial genome ATPase 6 gene, was reevaluated some 20 years after first being reported in the medical literature. Initia...

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Autores principales: Rawle, Mark J., Larner, A.J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3919433/
https://www.ncbi.nlm.nih.gov/pubmed/24516410
http://dx.doi.org/10.1159/000357518
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author Rawle, Mark J.
Larner, A.J.
author_facet Rawle, Mark J.
Larner, A.J.
author_sort Rawle, Mark J.
collection PubMed
description One member of a pedigree with NARP syndrome (neurogenic weakness, ataxia, and retinitis pigmentosa), a mitochondrial disorder due to a point mutation at position 8993 in the mitochondrial genome ATPase 6 gene, was reevaluated some 20 years after first being reported in the medical literature. Initially assessed at age 39 years, she had retinitis pigmentosa and a mild sensory axonal neuropathy, typical features of NARP, but was otherwise clinically normal. At age 59 years, she was registered blind, had sensorineural hearing impairment, had recently been diagnosed with diabetes mellitus, and may have had some mild cognitive impairment. This case shows that the clinical phenotype of NARP due to mitochondrial dysfunction may evolve over a period of decades.
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spelling pubmed-39194332014-02-10 NARP Syndrome: A 20-Year Follow-Up Rawle, Mark J. Larner, A.J. Case Rep Neurol Published online: December, 2013 One member of a pedigree with NARP syndrome (neurogenic weakness, ataxia, and retinitis pigmentosa), a mitochondrial disorder due to a point mutation at position 8993 in the mitochondrial genome ATPase 6 gene, was reevaluated some 20 years after first being reported in the medical literature. Initially assessed at age 39 years, she had retinitis pigmentosa and a mild sensory axonal neuropathy, typical features of NARP, but was otherwise clinically normal. At age 59 years, she was registered blind, had sensorineural hearing impairment, had recently been diagnosed with diabetes mellitus, and may have had some mild cognitive impairment. This case shows that the clinical phenotype of NARP due to mitochondrial dysfunction may evolve over a period of decades. S. Karger AG 2013-12-19 /pmc/articles/PMC3919433/ /pubmed/24516410 http://dx.doi.org/10.1159/000357518 Text en Copyright © 2013 by S. Karger AG, Basel http://creativecommons.org/licenses/by-nc/3.0/ This is an Open Access article licensed under the terms of the Creative Commons Attribution-NonCommercial 3.0 Unported license (CC BY-NC) (www.karger.com/OA-license), applicable to the online version of the article only. Users may download, print and share this work on the Internet for noncommercial purposes only, provided the original work is properly cited, and a link to the original work on http://www.karger.com and the terms of this license are included in any shared versions.
spellingShingle Published online: December, 2013
Rawle, Mark J.
Larner, A.J.
NARP Syndrome: A 20-Year Follow-Up
title NARP Syndrome: A 20-Year Follow-Up
title_full NARP Syndrome: A 20-Year Follow-Up
title_fullStr NARP Syndrome: A 20-Year Follow-Up
title_full_unstemmed NARP Syndrome: A 20-Year Follow-Up
title_short NARP Syndrome: A 20-Year Follow-Up
title_sort narp syndrome: a 20-year follow-up
topic Published online: December, 2013
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3919433/
https://www.ncbi.nlm.nih.gov/pubmed/24516410
http://dx.doi.org/10.1159/000357518
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