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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.
Afiliación
  • Tokuda N; Department of Neurology, Kyoto Okamoto Memorial Hospital, Kyoto, JPN.
  • Tsuji Y; Department of Neurology, Japanese Red Cross Kyoto Daini Hospital, Kyoto, JPN.
  • Inoue M; Department of Neurology, Kyoto Okamoto Memorial Hospital, Kyoto, JPN.
  • Nishino I; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, JPN.
  • Makino M; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, JPN.
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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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: Cureus Año: 2023 Tipo del documento: Article

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: Cureus Año: 2023 Tipo del documento: Article
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