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Novel compound heterozygous mutations of LAMA2-limb–girdle muscular dystrophy: A case report and literature review
The laminin α2 (LAMA2) gene pathogenic variants can lead to limb–girdle muscular dystrophy (known as LGMDR23), which is rarely reported and characterized by proximal weakness in the limbs. We present the case of a 52-year-old woman who gradually developed weakness in both lower extremities since the...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Frontiers Media S.A.
2023
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9968920/ https://www.ncbi.nlm.nih.gov/pubmed/36860576 http://dx.doi.org/10.3389/fneur.2023.1078151 |
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author | Wang, Duo-Zi Li, Bing-Hu Ma, Qiong Yu, Zhou Chen, Kai He, Ying Tan, Song |
author_facet | Wang, Duo-Zi Li, Bing-Hu Ma, Qiong Yu, Zhou Chen, Kai He, Ying Tan, Song |
author_sort | Wang, Duo-Zi |
collection | PubMed |
description | The laminin α2 (LAMA2) gene pathogenic variants can lead to limb–girdle muscular dystrophy (known as LGMDR23), which is rarely reported and characterized by proximal weakness in the limbs. We present the case of a 52-year-old woman who gradually developed weakness in both lower extremities since the age of 32 years. Magnetic resonance imaging (MRI) brain showed symmetrical sphenoid wings-like white matter demyelination in bilateral lateral ventricles. Electromyography showed quadriceps muscle damage on the bilateral lower extremity. Next-generation sequencing (NGS) found two loci variations in the LAMA2 gene, i.e., c.2749 + 2dup and c.8689C>T. This case highlights the importance of considering LGMDR23 in patients presenting with weakness and white matter demyelination on MRI brain and further expands the gene variants spectrum of LGMDR23. |
format | Online Article Text |
id | pubmed-9968920 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-99689202023-02-28 Novel compound heterozygous mutations of LAMA2-limb–girdle muscular dystrophy: A case report and literature review Wang, Duo-Zi Li, Bing-Hu Ma, Qiong Yu, Zhou Chen, Kai He, Ying Tan, Song Front Neurol Neurology The laminin α2 (LAMA2) gene pathogenic variants can lead to limb–girdle muscular dystrophy (known as LGMDR23), which is rarely reported and characterized by proximal weakness in the limbs. We present the case of a 52-year-old woman who gradually developed weakness in both lower extremities since the age of 32 years. Magnetic resonance imaging (MRI) brain showed symmetrical sphenoid wings-like white matter demyelination in bilateral lateral ventricles. Electromyography showed quadriceps muscle damage on the bilateral lower extremity. Next-generation sequencing (NGS) found two loci variations in the LAMA2 gene, i.e., c.2749 + 2dup and c.8689C>T. This case highlights the importance of considering LGMDR23 in patients presenting with weakness and white matter demyelination on MRI brain and further expands the gene variants spectrum of LGMDR23. Frontiers Media S.A. 2023-02-13 /pmc/articles/PMC9968920/ /pubmed/36860576 http://dx.doi.org/10.3389/fneur.2023.1078151 Text en Copyright © 2023 Wang, Li, Ma, Yu, Chen, He and Tan. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Neurology Wang, Duo-Zi Li, Bing-Hu Ma, Qiong Yu, Zhou Chen, Kai He, Ying Tan, Song Novel compound heterozygous mutations of LAMA2-limb–girdle muscular dystrophy: A case report and literature review |
title | Novel compound heterozygous mutations of LAMA2-limb–girdle muscular dystrophy: A case report and literature review |
title_full | Novel compound heterozygous mutations of LAMA2-limb–girdle muscular dystrophy: A case report and literature review |
title_fullStr | Novel compound heterozygous mutations of LAMA2-limb–girdle muscular dystrophy: A case report and literature review |
title_full_unstemmed | Novel compound heterozygous mutations of LAMA2-limb–girdle muscular dystrophy: A case report and literature review |
title_short | Novel compound heterozygous mutations of LAMA2-limb–girdle muscular dystrophy: A case report and literature review |
title_sort | novel compound heterozygous mutations of lama2-limb–girdle muscular dystrophy: a case report and literature review |
topic | Neurology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9968920/ https://www.ncbi.nlm.nih.gov/pubmed/36860576 http://dx.doi.org/10.3389/fneur.2023.1078151 |
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