A Case of Cardiogenic Stroke With a Novel LMNA Variant (c. 1135C>A; p.Leu379Ile)

Laminopathy is muscular dystrophy caused by an LMNA gene mutation. It is characterized by cardiac disease such as atrial fibrillation. We report a case of laminopathy in a 49-year-old woman who presented with cardiogenic stroke. She had experienced weakness in her limb-girdle muscles since childhood...

Descripción completa

Detalles Bibliográficos
Autores principales: Tokuda, Naoki, Tsuji, Yukiko, Inoue, Michio, Nishino, Ichizo, Makino, Masahiro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10197997/
https://www.ncbi.nlm.nih.gov/pubmed/37213971
http://dx.doi.org/10.7759/cureus.37824
_version_ 1785044656427368448
author Tokuda, Naoki
Tsuji, Yukiko
Inoue, Michio
Nishino, Ichizo
Makino, Masahiro
author_facet Tokuda, Naoki
Tsuji, Yukiko
Inoue, Michio
Nishino, Ichizo
Makino, Masahiro
author_sort Tokuda, Naoki
collection PubMed
description Laminopathy is muscular dystrophy caused by an LMNA gene mutation. It is characterized by cardiac disease such as atrial fibrillation. We report a case of laminopathy in a 49-year-old woman who presented with cardiogenic stroke. She had experienced weakness in her limb-girdle muscles since childhood, atrial fibrillation, cardiomyopathy, and mild contracture of the ankle joints, and had a familial history of heart disease. Gene analysis identified a novel heterozygous variant, c. 1135C>A (p.Leu379Ile), in the LMNA gene. Laminopathy can be an underlying disease in ischemic stroke, especially in young to middle age.
format Online
Article
Text
id pubmed-10197997
institution National Center for Biotechnology Information
language English
publishDate 2023
publisher Cureus
record_format MEDLINE/PubMed
spelling pubmed-101979972023-05-20 A Case of Cardiogenic Stroke With a Novel LMNA Variant (c. 1135C>A; p.Leu379Ile) Tokuda, Naoki Tsuji, Yukiko Inoue, Michio Nishino, Ichizo Makino, Masahiro Cureus Genetics Laminopathy is muscular dystrophy caused by an LMNA gene mutation. It is characterized by cardiac disease such as atrial fibrillation. We report a case of laminopathy in a 49-year-old woman who presented with cardiogenic stroke. She had experienced weakness in her limb-girdle muscles since childhood, atrial fibrillation, cardiomyopathy, and mild contracture of the ankle joints, and had a familial history of heart disease. Gene analysis identified a novel heterozygous variant, c. 1135C>A (p.Leu379Ile), in the LMNA gene. Laminopathy can be an underlying disease in ischemic stroke, especially in young to middle age. Cureus 2023-04-19 /pmc/articles/PMC10197997/ /pubmed/37213971 http://dx.doi.org/10.7759/cureus.37824 Text en Copyright © 2023, Tokuda et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Genetics
Tokuda, Naoki
Tsuji, Yukiko
Inoue, Michio
Nishino, Ichizo
Makino, Masahiro
A Case of Cardiogenic Stroke With a Novel LMNA Variant (c. 1135C>A; p.Leu379Ile)
title A Case of Cardiogenic Stroke With a Novel LMNA Variant (c. 1135C>A; p.Leu379Ile)
title_full A Case of Cardiogenic Stroke With a Novel LMNA Variant (c. 1135C>A; p.Leu379Ile)
title_fullStr A Case of Cardiogenic Stroke With a Novel LMNA Variant (c. 1135C>A; p.Leu379Ile)
title_full_unstemmed A Case of Cardiogenic Stroke With a Novel LMNA Variant (c. 1135C>A; p.Leu379Ile)
title_short A Case of Cardiogenic Stroke With a Novel LMNA Variant (c. 1135C>A; p.Leu379Ile)
title_sort case of cardiogenic stroke with a novel lmna variant (c. 1135c>a; p.leu379ile)
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10197997/
https://www.ncbi.nlm.nih.gov/pubmed/37213971
http://dx.doi.org/10.7759/cureus.37824
work_keys_str_mv AT tokudanaoki acaseofcardiogenicstrokewithanovellmnavariantc1135capleu379ile
AT tsujiyukiko acaseofcardiogenicstrokewithanovellmnavariantc1135capleu379ile
AT inouemichio acaseofcardiogenicstrokewithanovellmnavariantc1135capleu379ile
AT nishinoichizo acaseofcardiogenicstrokewithanovellmnavariantc1135capleu379ile
AT makinomasahiro acaseofcardiogenicstrokewithanovellmnavariantc1135capleu379ile
AT tokudanaoki caseofcardiogenicstrokewithanovellmnavariantc1135capleu379ile
AT tsujiyukiko caseofcardiogenicstrokewithanovellmnavariantc1135capleu379ile
AT inouemichio caseofcardiogenicstrokewithanovellmnavariantc1135capleu379ile
AT nishinoichizo caseofcardiogenicstrokewithanovellmnavariantc1135capleu379ile
AT makinomasahiro caseofcardiogenicstrokewithanovellmnavariantc1135capleu379ile

Ejemplares similares