A Case of Cardiogenic Stroke With a Novel LMNA Variant (c. 1135C>A; p.Leu379Ile).
Cureus
; 15(4): e37824, 2023 Apr.
Article
en En
| MEDLINE
| ID: mdl-37213971
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.
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1
Colección:
01-internacional
Base de datos:
MEDLINE
Tipo de estudio:
Prognostic_studies
Idioma:
En
Revista:
Cureus
Año:
2023
Tipo del documento:
Article