New Variants Expand the Neurological Phenotype of COQ7 Deficiency.
Maria Alcazar Fabra,Abraham J. Paredes-Fuentes, Manuel Torralba Carnerero, Daniel J. Moreno Fernandez de Ayala, Antonio Arroyo Luque,Ana Sanchez Cuesta, Carmine Staiano,Paula Sanchez-Pintos,Maria Luz Couce,Miguel Tomas,Ana Victoria Marco-Hernandez,Carmen Orellana,Francisco Martinez,Monica Rosello,Alfonso Caro, Juan Silvestre Oltra Soler,Sandra Monfort, Alejandro Sanchez,Dolores Rausell,Isidro Vitoria,Mireia del Toro,Angels Garcia-Cazorla,Natalia A. Julia-Palacios,Cristina Jou,Delia Yubero,Luis Carlos Lopez,Juan Diego Hernandez Camacho,Guillermo Lopez Lluch, Manuel Ballesteros Simarro,Juan Carlos Rodriguez Aguilera,Gloria Brea Calvo, Maria Victoria Cascajo Almenara,Rafael Artuch,Carlos Santos-Ocana JOURNAL OF INHERITED METABOLIC DISEASE(2024)
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CoQ10,COQ7,mitochondrial diseases,neurological disorders
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