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The CAPN3 p.Lys 254del variant is not always associated with dominant CAPN3-related muscular dystrophy.
Valls, Andrea; Gutiérrez-Gutiérrez, Gerardo; Martínez, Agustín; Ruiz-Roldán, Cristina; Camaño, Pilar; López de Munain, Adolfo; Sáenz, Amets.
Affiliation
  • Valls A; Neurosciences Area, Biodonostia Health Research Institute, San Sebastian, Spain.
  • Gutiérrez-Gutiérrez G; CIBERNED, CIBER, Spanish Ministry of Science & Innovation, Carlos III Health Institute, Madrid, Spain.
  • Martínez A; CIBERNED, CIBER, Spanish Ministry of Science & Innovation, Carlos III Health Institute, Madrid, Spain.
  • Ruiz-Roldán C; Department of Neurology, Hospital Universitario Infanta Sofía, Madrid, Spain.
  • Camaño P; Neuromuscular Diseases Unit, Universidad Europea de Madrid, Madrid, Spain.
  • López de Munain A; Hospital Público da Mariña-Burela, Burela, Spain.
  • Sáenz A; Neurosciences Area, Biodonostia Health Research Institute, San Sebastian, Spain.
Muscle Nerve ; 69(4): 472-476, 2024 Apr.
Article in En | MEDLINE | ID: mdl-38299438

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spinal Curvatures / Muscular Atrophy, Spinal / Calpain / Muscular Dystrophies, Limb-Girdle Type of study: Risk_factors_studies Limits: Humans Language: En Journal: Muscle Nerve Year: 2024 Type: Article Affiliation country: Spain

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spinal Curvatures / Muscular Atrophy, Spinal / Calpain / Muscular Dystrophies, Limb-Girdle Type of study: Risk_factors_studies Limits: Humans Language: En Journal: Muscle Nerve Year: 2024 Type: Article Affiliation country: Spain