A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy.

M Jaksch; S Hofmann; S Kleinle; S Liechti-Gallati; D E Pongratz; J Müller-Höcker; K B Jedele; T Meitinger; K D Gerbitz

doi:10.1136/jmg.35.11.895

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Research Article

A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy.

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Oct 1999	10	0	0
Nov 1999	2	0	0
Dec 1999	2	0	0
Jan 2000	2	0	0
Mar 2000	2	0	0
Apr 2000	2	0	0
Jul 2000	3	0	0
Aug 2000	1	0	0
Sep 2000	2	0	0
Nov 2000	1	0	0
Mar 2001	2	0	0
Apr 2001	2	0	0
Jul 2001	1	0	0
Sep 2001	1	0	0
Oct 2001	3	0	0
Nov 2001	1	0	0
Dec 2001	1	0	0
Jan 2002	1	0	0
Mar 2002	1	0	0
May 2002	3	0	0
Jun 2002	1	0	0
Jul 2002	3	0	0
Aug 2002	1	0	0
Oct 2002	2	0	0
Dec 2002	2	0	0
Jan 2003	5	0	0
Feb 2003	1	0	0
Mar 2003	4	0	0
Apr 2003	3	0	0
May 2003	1	0	0
Jun 2003	1	0	0
Jul 2003	3	0	0
Aug 2003	4	0	0
Sep 2003	9	0	0
Oct 2003	6	0	0
Nov 2003	8	0	0
Dec 2003	11	0	0
Jan 2004	14	0	0
Feb 2004	12	0	0
Mar 2004	13	0	0
Apr 2004	10	0	0
May 2004	7	0	0
Jun 2004	8	0	0
Jul 2004	13	0	0
Aug 2004	8	0	0
Sep 2004	5	0	0
Oct 2004	8	0	0
Nov 2004	5	0	0
Dec 2004	8	0	0
Jan 2005	7	0	0
Feb 2005	6	0	0
Mar 2005	6	0	0
Apr 2005	4	0	0
May 2005	1	0	0
Jul 2005	1	0	0
Aug 2005	6	0	0
Sep 2005	2	0	0
Oct 2005	6	0	0
Nov 2005	4	0	0
Dec 2005	3	0	0
Jan 2006	1	0	0
Mar 2006	2	0	0
Apr 2006	6	0	0
May 2006	1	0	0
Jun 2006	2	0	0
Jul 2006	2	0	0
Aug 2006	1	0	0
Sep 2006	3	0	0
Oct 2006	2	0	0
Nov 2006	2	0	0
Jan 2007	3	0	0
Feb 2007	9	0	0
Apr 2007	6	0	0
May 2007	3	0	0
Jun 2007	9	0	0
Jul 2007	3	0	0
Aug 2007	2	0	0
Sep 2007	2	0	0
Oct 2007	2	0	0
Nov 2007	21	0	0
Jan 2008	1	0	0
Feb 2008	7	0	0
Mar 2008	5	0	0
Apr 2008	3	0	0
Jun 2008	1	0	0
Jul 2008	2	0	0
Aug 2008	2	0	0
Sep 2008	7	0	0
Oct 2008	8	0	0
Nov 2008	8	0	3
Dec 2008	2	0	1
Jan 2009	1	0	5
Feb 2009	0	0	2
Mar 2009	5	0	8
Apr 2009	4	0	1
May 2009	4	0	1
Jun 2009	4	0	3
Jul 2009	3	0	1
Aug 2009	2	0	1
Sep 2009	4	0	4
Oct 2009	3	0	2
Nov 2009	7	0	2
Dec 2009	7	0	0
Jan 2010	0	0	3
Feb 2010	10	0	4
Mar 2010	10	0	3
Apr 2010	7	0	4
May 2010	3	0	1
Jun 2010	6	0	4
Jul 2010	3	0	2
Aug 2010	1	0	1
Sep 2010	0	0	1
Oct 2010	2	0	1
Nov 2010	8	0	1
Dec 2010	1	0	1
Jan 2011	9	0	1
Feb 2011	2	0	1
Mar 2011	5	0	4
Apr 2011	2	0	1
May 2011	2	0	3
Jun 2011	5	0	0
Jul 2011	2	0	2
Aug 2011	2	0	2
Sep 2011	1	0	2
Oct 2011	5	0	2
Nov 2011	3	0	2
Dec 2011	2	0	7
Jan 2012	6	0	4
Feb 2012	5	0	0
Mar 2012	10	0	6
Apr 2012	4	0	11
May 2012	1	0	2
Jun 2012	8	0	2
Jul 2012	5	0	5
Aug 2012	5	0	2
Sep 2012	9	0	4
Oct 2012	9	0	4
Nov 2012	8	0	2
Dec 2012	7	0	2
Jan 2013	16	0	5
Feb 2013	7	0	6
Mar 2013	2	0	5
Apr 2013	4	0	6
May 2013	9	0	6
Jun 2013	1	0	2
Jul 2013	3	0	3
Aug 2013	6	0	3
Sep 2013	1	0	0
Oct 2013	6	0	3
Nov 2013	13	0	2
Dec 2013	14	0	3
Jan 2014	2	0	5
Feb 2014	2	0	3
Mar 2014	5	0	4
Apr 2014	5	0	6
May 2014	8	0	2
Jun 2014	3	0	1
Jul 2014	9	1	7
Aug 2014	2	0	2
Sep 2014	2	0	3
Oct 2014	1	1	5
Nov 2014	7	1	3
Dec 2014	11	0	2
Jan 2015	6	0	5
Feb 2015	9	0	7
Mar 2015	20	0	6
Apr 2015	8	0	6
May 2015	10	0	4
Jun 2015	6	0	5
Jul 2015	1	0	15
Aug 2015	0	0	8
Sep 2015	4	0	4
Oct 2015	1	0	8
Nov 2015	5	0	4
Dec 2015	4	0	4
Jan 2016	3	0	6
Feb 2016	0	0	1
Mar 2016	9	0	7
Apr 2016	5	0	3
May 2016	6	0	3
Jun 2016	2	0	3
Jul 2016	5	0	5
Aug 2016	4	0	3
Sep 2016	7	0	3
Oct 2016	4	0	1
Nov 2016	2	0	2
Dec 2016	2	0	3
Jan 2017	7	0	7
Feb 2017	4	0	4
Mar 2017	8	0	6
Apr 2017	2	0	1
May 2017	10	0	4
Jun 2017	11	0	3
Jul 2017	9	0	5
Aug 2017	6	0	2
Sep 2017	16	0	4
Oct 2017	20	0	8
Nov 2017	22	0	2
Dec 2017	20	0	2
Jan 2018	6	0	0
Feb 2018	10	0	7
Mar 2018	26	0	1
Apr 2018	10	0	1
May 2018	18	0	10
Jun 2018	34	0	6
Jul 2018	16	0	5
Aug 2018	26	0	2
Sep 2018	8	0	0
Oct 2018	24	0	11
Nov 2018	10	0	3
Dec 2018	30	0	2
Jan 2019	18	0	1
Feb 2019	24	0	4
Mar 2019	14	0	3
Apr 2019	10	0	6
May 2019	12	0	2
Jun 2019	12	0	11
Jul 2019	12	0	8
Aug 2019	8	0	9
Sep 2019	4	0	8
Oct 2019	22	0	7
Nov 2019	8	0	4
Dec 2019	12	0	9
Jan 2020	28	0	6
Feb 2020	20	0	8
Mar 2020	10	0	7
Apr 2020	18	0	6
May 2020	28	0	4
Jun 2020	20	0	5
Jul 2020	16	0	6
Aug 2020	2	0	8
Sep 2020	32	0	2
Oct 2020	16	0	6
Nov 2020	20	0	5
Dec 2020	16	0	5
Jan 2021	36	0	5
Feb 2021	18	0	2
Mar 2021	18	0	5
Apr 2021	16	0	2
May 2021	4	0	7
Jun 2021	0	0	4
Jul 2021	0	0	10
Aug 2021	0	0	6
Sep 2021	0	0	9
Oct 2021	28	0	24
Nov 2021	12	0	17
Dec 2021	14	0	3
Jan 2022	30	0	10
Feb 2022	18	0	5
Mar 2022	14	0	7
Apr 2022	34	0	6
May 2022	46	0	17
Jun 2022	42	0	5
Jul 2022	30	0	9
Aug 2022	50	0	7
Sep 2022	34	0	26
Oct 2022	46	0	6
Nov 2022	32	0	8
Dec 2022	8	0	1
Jan 2023	16	0	7
Feb 2023	74	0	2
Mar 2023	20	0	5
Apr 2023	6	0	4
May 2023	8	0	6
Jun 2023	12	0	1
Jul 2023	28	0	16
Aug 2023	14	0	7
Sep 2023	8	0	6
Oct 2023	12	0	3
Nov 2023	14	0	3
Dec 2023	32	0	1
Jan 2024	36	0	2
Feb 2024	36	0	0
Mar 2024	306	0	1
Total	2754	3	835

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