Cargando…

Levodopa Responsive Dystonia Parkinsonism, Intellectual Disability, and Optic Atrophy Due to a Heterozygous Missense Variant in AFG3L2

Detalles Bibliográficos
Autores principales: Wong, Wui‐Kwan, Troedson, Christopher, Dale, Russell C., Roscioli, Tony, Field, Michael, Palmer, Elizabeth, Martin, Ellenore M., Kumar, Kishore R., Mohammad, Shekeeb S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9464989/
https://www.ncbi.nlm.nih.gov/pubmed/36110148
http://dx.doi.org/10.1002/mdc3.13538
_version_ 1784787694738472960
author Wong, Wui‐Kwan
Troedson, Christopher
Dale, Russell C.
Roscioli, Tony
Field, Michael
Palmer, Elizabeth
Martin, Ellenore M.
Kumar, Kishore R.
Mohammad, Shekeeb S.
author_facet Wong, Wui‐Kwan
Troedson, Christopher
Dale, Russell C.
Roscioli, Tony
Field, Michael
Palmer, Elizabeth
Martin, Ellenore M.
Kumar, Kishore R.
Mohammad, Shekeeb S.
author_sort Wong, Wui‐Kwan
collection PubMed
description
format Online
Article
Text
id pubmed-9464989
institution National Center for Biotechnology Information
language English
publishDate 2022
publisher John Wiley & Sons, Inc.
record_format MEDLINE/PubMed
spelling pubmed-94649892022-09-14 Levodopa Responsive Dystonia Parkinsonism, Intellectual Disability, and Optic Atrophy Due to a Heterozygous Missense Variant in AFG3L2 Wong, Wui‐Kwan Troedson, Christopher Dale, Russell C. Roscioli, Tony Field, Michael Palmer, Elizabeth Martin, Ellenore M. Kumar, Kishore R. Mohammad, Shekeeb S. Mov Disord Clin Pract Case Reports John Wiley & Sons, Inc. 2022-09-11 /pmc/articles/PMC9464989/ /pubmed/36110148 http://dx.doi.org/10.1002/mdc3.13538 Text en © 2022 The Authors. Movement Disorders Clinical Practice published by Wiley Periodicals LLC. on behalf of International Parkinson and Movement Disorder Society. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://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
Wong, Wui‐Kwan
Troedson, Christopher
Dale, Russell C.
Roscioli, Tony
Field, Michael
Palmer, Elizabeth
Martin, Ellenore M.
Kumar, Kishore R.
Mohammad, Shekeeb S.
Levodopa Responsive Dystonia Parkinsonism, Intellectual Disability, and Optic Atrophy Due to a Heterozygous Missense Variant in AFG3L2
title Levodopa Responsive Dystonia Parkinsonism, Intellectual Disability, and Optic Atrophy Due to a Heterozygous Missense Variant in AFG3L2
title_full Levodopa Responsive Dystonia Parkinsonism, Intellectual Disability, and Optic Atrophy Due to a Heterozygous Missense Variant in AFG3L2
title_fullStr Levodopa Responsive Dystonia Parkinsonism, Intellectual Disability, and Optic Atrophy Due to a Heterozygous Missense Variant in AFG3L2
title_full_unstemmed Levodopa Responsive Dystonia Parkinsonism, Intellectual Disability, and Optic Atrophy Due to a Heterozygous Missense Variant in AFG3L2
title_short Levodopa Responsive Dystonia Parkinsonism, Intellectual Disability, and Optic Atrophy Due to a Heterozygous Missense Variant in AFG3L2
title_sort levodopa responsive dystonia parkinsonism, intellectual disability, and optic atrophy due to a heterozygous missense variant in afg3l2
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9464989/
https://www.ncbi.nlm.nih.gov/pubmed/36110148
http://dx.doi.org/10.1002/mdc3.13538
work_keys_str_mv AT wongwuikwan levodoparesponsivedystoniaparkinsonismintellectualdisabilityandopticatrophyduetoaheterozygousmissensevariantinafg3l2
AT troedsonchristopher levodoparesponsivedystoniaparkinsonismintellectualdisabilityandopticatrophyduetoaheterozygousmissensevariantinafg3l2
AT dalerussellc levodoparesponsivedystoniaparkinsonismintellectualdisabilityandopticatrophyduetoaheterozygousmissensevariantinafg3l2
AT rosciolitony levodoparesponsivedystoniaparkinsonismintellectualdisabilityandopticatrophyduetoaheterozygousmissensevariantinafg3l2
AT fieldmichael levodoparesponsivedystoniaparkinsonismintellectualdisabilityandopticatrophyduetoaheterozygousmissensevariantinafg3l2
AT palmerelizabeth levodoparesponsivedystoniaparkinsonismintellectualdisabilityandopticatrophyduetoaheterozygousmissensevariantinafg3l2
AT martinellenorem levodoparesponsivedystoniaparkinsonismintellectualdisabilityandopticatrophyduetoaheterozygousmissensevariantinafg3l2
AT kumarkishorer levodoparesponsivedystoniaparkinsonismintellectualdisabilityandopticatrophyduetoaheterozygousmissensevariantinafg3l2
AT mohammadshekeebs levodoparesponsivedystoniaparkinsonismintellectualdisabilityandopticatrophyduetoaheterozygousmissensevariantinafg3l2