Novel OPA1 mutation featuring spastic paraparesis and intestinal dysmotility

A 58-year-old man with optic atrophy, spastic paraparesis, axonal sensorimotor peripheral neuropathy and intestinal dysmotility harbors a novel heterozygous missense mutation in the mitochondrial import signal peptide of OPA1. The case underscores the role of OPA1 in the pathogenesis of spastic para...

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Detalles Bibliográficos
Autores principales: Kazamel, Mohamed, Wong, Lee-Jun, Milone, Margherita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2014
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121360/
https://www.ncbi.nlm.nih.gov/pubmed/27896119
http://dx.doi.org/10.1016/j.ymgmr.2014.09.006
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author Kazamel, Mohamed
Wong, Lee-Jun
Milone, Margherita
author_facet Kazamel, Mohamed
Wong, Lee-Jun
Milone, Margherita
author_sort Kazamel, Mohamed
collection PubMed
description A 58-year-old man with optic atrophy, spastic paraparesis, axonal sensorimotor peripheral neuropathy and intestinal dysmotility harbors a novel heterozygous missense mutation in the mitochondrial import signal peptide of OPA1. The case underscores the role of OPA1 in the pathogenesis of spastic paraparesis, so far reported only in very few cases, and it adds intestinal dysmotility to the spectrum of adult-onset clinical manifestation of OPA1-associated disease.
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spelling pubmed-51213602016-11-28 Novel OPA1 mutation featuring spastic paraparesis and intestinal dysmotility Kazamel, Mohamed Wong, Lee-Jun Milone, Margherita Mol Genet Metab Rep Short Communication A 58-year-old man with optic atrophy, spastic paraparesis, axonal sensorimotor peripheral neuropathy and intestinal dysmotility harbors a novel heterozygous missense mutation in the mitochondrial import signal peptide of OPA1. The case underscores the role of OPA1 in the pathogenesis of spastic paraparesis, so far reported only in very few cases, and it adds intestinal dysmotility to the spectrum of adult-onset clinical manifestation of OPA1-associated disease. Elsevier 2014-10-08 /pmc/articles/PMC5121360/ /pubmed/27896119 http://dx.doi.org/10.1016/j.ymgmr.2014.09.006 Text en © 2014 The Authors http://creativecommons.org/licenses/by-nc-nd/3.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/3.0/).
spellingShingle Short Communication
Kazamel, Mohamed
Wong, Lee-Jun
Milone, Margherita
Novel OPA1 mutation featuring spastic paraparesis and intestinal dysmotility
title Novel OPA1 mutation featuring spastic paraparesis and intestinal dysmotility
title_full Novel OPA1 mutation featuring spastic paraparesis and intestinal dysmotility
title_fullStr Novel OPA1 mutation featuring spastic paraparesis and intestinal dysmotility
title_full_unstemmed Novel OPA1 mutation featuring spastic paraparesis and intestinal dysmotility
title_short Novel OPA1 mutation featuring spastic paraparesis and intestinal dysmotility
title_sort novel opa1 mutation featuring spastic paraparesis and intestinal dysmotility
topic Short Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121360/
https://www.ncbi.nlm.nih.gov/pubmed/27896119
http://dx.doi.org/10.1016/j.ymgmr.2014.09.006
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