Novel Homozygous Variant in <i>COQ7</i> in Siblings With Hereditary Motor Neuropathy.

Smith, Ian C; Pileggi, Chantal A; Wang, Ying; Kernohan, Kristin; Hartley, Taila; McMillan, Hugh J; Sampaio, Marcos Loreto; Melkus, Gerd; Woulfe, John; Parmar, Gaganvir; Bourque, Pierre R; Breiner, Ari; Zwicker, Jocelyn; Pringle, C Elizabeth; Jarinova, Olga; Lochmüller, Hanns; Dyment, David A; Brais, Bernard; Boycott, Kym M; Hekimi, Siegfried; Harper, Mary-Ellen; Warman-Chardon, Jodi

Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy.

Smith, Ian C; Pileggi, Chantal A; Wang, Ying; Kernohan, Kristin; Hartley, Taila; McMillan, Hugh J; Sampaio, Marcos Loreto; Melkus, Gerd; Woulfe, John; Parmar, Gaganvir; Bourque, Pierre R; Breiner, Ari; Zwicker, Jocelyn; Pringle, C Elizabeth; Jarinova, Olga; Lochmüller, Hanns; Dyment, David A; Brais, Bernard; Boycott, Kym M; Hekimi, Siegfried; Harper, Mary-Ellen; Warman-Chardon, Jodi.

Afiliación

Smith IC; The Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), Universi
Pileggi CA; The Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), Universi
Wang Y; The Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), Universi
Kernohan K; The Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), Universi
Hartley T; The Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), Universi
McMillan HJ; The Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), Universi
Sampaio ML; The Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), Universi
Melkus G; The Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), Universi
Woulfe J; The Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), Universi
Parmar G; The Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), Universi
Bourque PR; The Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), Universi
Breiner A; The Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), Universi
Zwicker J; The Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), Universi
Pringle CE; The Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), Universi
Jarinova O; The Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), Universi
Lochmüller H; The Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), Universi
Dyment DA; The Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), Universi
Brais B; The Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), Universi
Boycott KM; The Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), Universi
Hekimi S; The Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), Universi
Harper ME; The Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), Universi
Warman-Chardon J; The Ottawa Hospital Research Institute (I.C.S., M.L.S., G.M., A.B., J.Z., H.L., J.W.-C.), Ottawa; Department of Biochemistry, Microbiology and Immunology (C.A.P., G.P., M.-E.H.), Faculty of Medicine, University of Ottawa, Ontario; Ottawa Institute of Systems Biology (C.A.P., G.P., M.-E.H.), Universi

Neurol Genet ; 9(1): e200048, 2023 Feb.

Article en En | MEDLINE | ID: mdl-37077559

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Texto completo: 1 Bases de datos: MEDLINE Idioma: En Revista: Neurol Genet Año: 2023 Tipo del documento: Article