Heterozygous POLG variant Ser1181Asn is associated with autosomal dominant neuro-myopathy in one family with no further specific manifestations of mitochondrial syndrome

Detalles Bibliográficos
Autores principales: Dohrn, Maike F., Beijer, Danique, Mulahasanovic, Lejla
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Comment
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9272550/
https://www.ncbi.nlm.nih.gov/pubmed/35811324
http://dx.doi.org/10.1186/s42466-022-00197-6
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author Dohrn, Maike F.
Beijer, Danique
Mulahasanovic, Lejla
author_facet Dohrn, Maike F.
Beijer, Danique
Mulahasanovic, Lejla
author_sort Dohrn, Maike F.
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spelling pubmed-92725502022-07-12 Heterozygous POLG variant Ser1181Asn is associated with autosomal dominant neuro-myopathy in one family with no further specific manifestations of mitochondrial syndrome Dohrn, Maike F. Beijer, Danique Mulahasanovic, Lejla Neurol Res Pract Comment BioMed Central 2022-07-11 /pmc/articles/PMC9272550/ /pubmed/35811324 http://dx.doi.org/10.1186/s42466-022-00197-6 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Comment
Dohrn, Maike F.
Beijer, Danique
Mulahasanovic, Lejla
Heterozygous POLG variant Ser1181Asn is associated with autosomal dominant neuro-myopathy in one family with no further specific manifestations of mitochondrial syndrome
title Heterozygous POLG variant Ser1181Asn is associated with autosomal dominant neuro-myopathy in one family with no further specific manifestations of mitochondrial syndrome
title_full Heterozygous POLG variant Ser1181Asn is associated with autosomal dominant neuro-myopathy in one family with no further specific manifestations of mitochondrial syndrome
title_fullStr Heterozygous POLG variant Ser1181Asn is associated with autosomal dominant neuro-myopathy in one family with no further specific manifestations of mitochondrial syndrome
title_full_unstemmed Heterozygous POLG variant Ser1181Asn is associated with autosomal dominant neuro-myopathy in one family with no further specific manifestations of mitochondrial syndrome
title_short Heterozygous POLG variant Ser1181Asn is associated with autosomal dominant neuro-myopathy in one family with no further specific manifestations of mitochondrial syndrome
title_sort heterozygous polg variant ser1181asn is associated with autosomal dominant neuro-myopathy in one family with no further specific manifestations of mitochondrial syndrome
topic Comment
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9272550/
https://www.ncbi.nlm.nih.gov/pubmed/35811324
http://dx.doi.org/10.1186/s42466-022-00197-6
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AT beijerdanique heterozygouspolgvariantser1181asnisassociatedwithautosomaldominantneuromyopathyinonefamilywithnofurtherspecificmanifestationsofmitochondrialsyndrome
AT mulahasanoviclejla heterozygouspolgvariantser1181asnisassociatedwithautosomaldominantneuromyopathyinonefamilywithnofurtherspecificmanifestationsofmitochondrialsyndrome

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