The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency

M Chol; S Lebon; P Bénit; D Chretien; P de Lonlay; A Goldenberg; S Odent; L Hertz-Pannier; C Vincent-Delorme; V Cormier-Daire; P Rustin; A Rötig; A Munnich

doi:10.1136/jmg.40.3.188

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The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency

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	Abstract	Full	Pdf
Mar 2003	112	184	69
Apr 2003	18	119	46
May 2003	9	77	33
Jun 2003	3	50	23
Jul 2003	10	76	13
Aug 2003	8	35	14
Sep 2003	20	24	5
Oct 2003	17	74	12
Nov 2003	16	27	18
Dec 2003	12	31	6
Jan 2004	24	28	10
Feb 2004	12	37	12
Mar 2004	15	32	13
Apr 2004	10	27	19
May 2004	32	39	6
Jun 2004	36	66	20
Jul 2004	45	58	9
Aug 2004	45	47	12
Sep 2004	32	49	15
Oct 2004	9	26	12
Nov 2004	23	29	15
Dec 2004	8	37	22
Jan 2005	10	29	17
Feb 2005	12	30	27
Mar 2005	9	38	15
Apr 2005	6	53	32
May 2005	3	18	18
Jun 2005	15	9	15
Jul 2005	4	18	15
Aug 2005	3	15	9
Sep 2005	6	16	14
Oct 2005	3	24	21
Nov 2005	5	17	7
Dec 2005	4	18	15
Jan 2006	4	11	5
Feb 2006	4	19	10
Mar 2006	2	24	19
Apr 2006	3	22	14
May 2006	4	16	7
Jun 2006	12	25	12
Jul 2006	6	33	18
Aug 2006	6	20	9
Sep 2006	5	23	20
Oct 2006	11	27	16
Nov 2006	7	25	12
Dec 2006	8	51	21
Jan 2007	4	28	15
Feb 2007	8	27	13
Mar 2007	3	32	18
Apr 2007	28	8	6
May 2007	24	17	7
Jun 2007	20	19	9
Jul 2007	15	22	16
Aug 2007	19	11	15
Sep 2007	13	13	12
Oct 2007	15	17	11
Nov 2007	11	7	11
Dec 2007	6	7	3
Jan 2008	13	9	5
Feb 2008	17	4	4
Mar 2008	17	10	8
Apr 2008	17	3	6
May 2008	18	8	6
Jun 2008	19	3	1
Jul 2008	16	5	4
Aug 2008	13	3	7
Sep 2008	22	8	6
Oct 2008	16	6	9
Nov 2008	10	3	2
Dec 2008	8	5	4
Jan 2009	18	4	8
Feb 2009	12	2	4
Mar 2009	13	6	6
Apr 2009	3	2	0
May 2009	10	7	0
Jun 2009	13	4	1
Jul 2009	9	5	0
Aug 2009	12	2	0
Sep 2009	13	5	4
Oct 2009	12	6	4
Nov 2009	8	12	5
Dec 2009	17	3	3
Jan 2010	9	2	7
Feb 2010	16	6	2
Mar 2010	18	5	6
Apr 2010	21	5	3
May 2010	29	2	0
Jun 2010	11	3	6
Jul 2010	24	9	1
Aug 2010	20	11	5
Sep 2010	44	13	3
Oct 2010	25	22	3
Nov 2010	11	8	7
Dec 2010	21	8	1
Jan 2011	15	13	3
Feb 2011	25	13	5
Mar 2011	17	3	2
Apr 2011	14	6	3
May 2011	30	10	1
Jun 2011	17	5	0
Jul 2011	30	11	3
Aug 2011	22	5	0
Sep 2011	16	4	1
Oct 2011	34	16	1
Nov 2011	43	22	8
Dec 2011	10	28	13
Jan 2012	8	35	3
Feb 2012	10	32	6
Mar 2012	6	19	15
Apr 2012	13	33	23
May 2012	8	30	9
Jun 2012	10	21	16
Jul 2012	7	16	15
Aug 2012	13	15	17
Sep 2012	13	23	13
Oct 2012	9	46	12
Nov 2012	13	26	3
Dec 2012	17	20	9
Jan 2013	24	23	7
Feb 2013	11	17	6
Mar 2013	8	15	11
Apr 2013	12	24	9
May 2013	14	20	11
Jun 2013	14	35	10
Jul 2013	9	11	2
Aug 2013	8	16	4
Sep 2013	7	14	1
Oct 2013	4	12	3
Nov 2013	19	25	6
Dec 2013	19	52	8
Jan 2014	17	27	4
Feb 2014	5	15	1
Mar 2014	7	16	1
Apr 2014	11	17	6
May 2014	9	27	5
Jun 2014	9	34	3
Jul 2014	11	15	2
Aug 2014	17	23	3
Sep 2014	11	35	1
Oct 2014	4	7	1
Nov 2014	11	4	1
Dec 2014	12	12	1
Jan 2015	4	11	1
Feb 2015	9	10	5
Mar 2015	16	23	3
Apr 2015	12	17	3
May 2015	5	12	1
Jun 2015	5	14	3
Jul 2015	6	20	4
Aug 2015	5	7	3
Sep 2015	11	8	3
Oct 2015	4	8	2
Nov 2015	6	11	4
Dec 2015	12	12	4
Jan 2016	9	16	3
Feb 2016	11	8	2
Mar 2016	15	14	2
Apr 2016	20	20	8
May 2016	9	17	3
Jun 2016	6	8	2
Jul 2016	10	13	3
Aug 2016	12	2	1
Sep 2016	11	9	4
Oct 2016	12	9	6
Nov 2016	13	20	4
Dec 2016	9	6	1
Jan 2017	20	15	3
Feb 2017	7	11	4
Mar 2017	13	16	2
Apr 2017	2	11	1
May 2017	2	19	4
Jun 2017	10	40	3
Jul 2017	14	13	5
Aug 2017	17	14	6
Sep 2017	34	28	6
Oct 2017	30	18	6
Nov 2017	27	19	13
Dec 2017	26	19	5
Jan 2018	25	23	3
Feb 2018	28	23	1
Mar 2018	30	26	8
Apr 2018	51	35	7
May 2018	35	27	18
Jun 2018	48	45	18
Jul 2018	38	32	12
Aug 2018	32	28	9
Sep 2018	30	30	5
Oct 2018	35	25	14
Nov 2018	34	23	15
Dec 2018	25	19	11
Jan 2019	30	20	1
Feb 2019	10	8	13
Mar 2019	24	21	10
Apr 2019	27	20	12
May 2019	53	33	12
Jun 2019	27	24	7
Jul 2019	25	23	10
Aug 2019	20	18	5
Sep 2019	28	21	12
Oct 2019	33	25	7
Nov 2019	20	12	7
Dec 2019	25	21	7
Jan 2020	29	25	6
Feb 2020	19	17	12
Mar 2020	24	20	6
Apr 2020	23	21	10
May 2020	16	13	11
Jun 2020	12	6	8
Jul 2020	11	9	6
Aug 2020	14	10	9
Sep 2020	29	25	7
Oct 2020	18	14	11
Nov 2020	37	13	8
Dec 2020	24	18	8
Jan 2021	39	26	12
Feb 2021	17	11	4
Mar 2021	20	14	12
Apr 2021	9	9	8
May 2021	10	10	7
Jun 2021	3	3	2
Jul 2021	13	11	10
Aug 2021	9	9	13
Sep 2021	14	12	11
Oct 2021	37	19	31
Nov 2021	20	14	17
Dec 2021	23	17	8
Jan 2022	26	14	5
Feb 2022	23	19	1
Mar 2022	15	12	13
Apr 2022	34	28	9
May 2022	40	36	18
Jun 2022	35	28	11
Jul 2022	19	19	5
Aug 2022	30	25	5
Sep 2022	30	26	16
Oct 2022	43	37	9
Nov 2022	52	40	17
Dec 2022	34	22	10
Jan 2023	21	19	11
Feb 2023	31	27	8
Mar 2023	50	24	10
Apr 2023	22	18	17
May 2023	20	18	11
Jun 2023	16	14	8
Jul 2023	65	17	19
Aug 2023	37	15	11
Sep 2023	27	23	9
Oct 2023	38	32	8
Nov 2023	47	48	10
Dec 2023	67	11	3
Jan 2024	32	2	2
Feb 2024	39	4	2
Mar 2024	142	1	2
Apr 2024	61	5	1
May 2024	77	2	1
Jun 2024	25	0	2
Jul 2024	74	4	3
Aug 2024	63	1	2
Sep 2024	47	2	2
Total	5101	5167	2192

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