Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families

G Uziel; I Moroni; E Lamantea; G M Fratta; E Ciceri; F Carrara; M Zeviani

doi:10.1136/jnnp.63.1.16

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Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families

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	Abstract	Full	Pdf
Mar 1999	4	6	8
Apr 1999	0	5	5
May 1999	2	11	11
Jun 1999	0	3	6
Jul 1999	1	4	0
Aug 1999	0	2	0
Oct 1999	2	3	1
Nov 1999	10	11	2
Dec 1999	2	3	0
Jan 2000	0	6	3
Feb 2000	1	4	0
Mar 2000	0	9	1
Apr 2000	4	8	2
May 2000	2	3	2
Jun 2000	1	2	1
Jul 2000	0	5	2
Aug 2000	2	8	4
Oct 2000	2	15	3
Nov 2000	3	21	20
Dec 2000	0	4	3
Jan 2001	0	10	7
Feb 2001	0	10	5
Mar 2001	1	9	2
Apr 2001	0	6	0
May 2001	2	11	1
Jun 2001	0	6	1
Jul 2001	4	9	5
Aug 2001	4	7	2
Sep 2001	0	7	0
Oct 2001	2	8	0
Nov 2001	1	12	0
Dec 2001	1	18	3
Jan 2002	1	6	1
Feb 2002	1	8	0
Mar 2002	1	10	4
Apr 2002	0	8	1
May 2002	0	14	3
Jun 2002	0	12	1
Jul 2002	2	10	1
Aug 2002	1	6	5
Sep 2002	3	14	13
Oct 2002	0	16	10
Nov 2002	1	11	8
Dec 2002	1	14	11
Jan 2003	0	22	14
Feb 2003	0	9	8
Mar 2003	5	17	6
Apr 2003	1	7	9
May 2003	1	13	14
Jun 2003	4	8	3
Jul 2003	1	25	23
Aug 2003	1	14	7
Sep 2003	1	6	2
Oct 2003	0	8	0
Nov 2003	2	22	20
Dec 2003	2	11	11
Jan 2004	0	9	7
Feb 2004	0	22	12
Mar 2004	5	26	13
Apr 2004	2	18	13
May 2004	2	7	5
Jun 2004	5	20	15
Jul 2004	11	38	11
Aug 2004	20	35	8
Sep 2004	12	56	18
Oct 2004	18	59	13
Nov 2004	9	71	19
Dec 2004	15	92	15
Jan 2005	13	95	12
Feb 2005	11	101	13
Mar 2005	17	68	15
Apr 2005	16	55	15
May 2005	3	71	12
Jun 2005	4	43	17
Jul 2005	3	18	8
Aug 2005	4	35	19
Sep 2005	3	29	15
Oct 2005	8	47	17
Nov 2005	6	29	9
Dec 2005	3	37	9
Jan 2006	4	27	9
Feb 2006	8	21	8
Mar 2006	11	51	13
Apr 2006	9	46	18
May 2006	9	19	8
Jun 2006	7	16	8
Jul 2006	5	8	5
Aug 2006	9	23	14
Sep 2006	8	35	11
Oct 2006	20	29	19
Nov 2006	13	66	36
Dec 2006	4	25	4
Jan 2007	8	33	11
Feb 2007	7	33	16
Mar 2007	12	33	15
Apr 2007	42	14	8
May 2007	26	16	11
Jun 2007	15	9	9
Jul 2007	12	11	11
Aug 2007	21	13	10
Sep 2007	20	9	6
Oct 2007	25	10	12
Nov 2007	23	12	9
Dec 2007	15	7	4
Jan 2008	16	8	9
Feb 2008	21	8	7
Mar 2008	27	8	10
Apr 2008	26	13	14
May 2008	20	9	7
Jun 2008	7	5	8
Jul 2008	12	1	1
Aug 2008	17	10	9
Sep 2008	20	7	4
Oct 2008	17	9	7
Nov 2008	14	5	1
Dec 2008	8	3	2
Jan 2009	10	2	3
Feb 2009	11	7	7
Mar 2009	12	4	5
Apr 2009	15	2	2
May 2009	3	3	4
Jun 2009	10	4	1
Jul 2009	10	1	1
Aug 2009	9	4	4
Sep 2009	7	2	2
Oct 2009	11	5	3
Nov 2009	29	5	1
Dec 2009	19	1	3
Jan 2010	12	2	16
Feb 2010	7	1	1
Mar 2010	15	4	2
Apr 2010	15	3	4
May 2010	7	4	2
Jun 2010	13	2	4
Jul 2010	13	2	1
Aug 2010	22	2	3
Sep 2010	26	21	1
Oct 2010	39	14	2
Nov 2010	28	4	1
Dec 2010	31	4	3
Jan 2011	30	3	1
Feb 2011	39	5	4
Mar 2011	24	13	2
Apr 2011	12	5	6
May 2011	17	5	3
Jun 2011	14	1	0
Jul 2011	7	9	4
Aug 2011	11	5	3
Sep 2011	15	3	0
Oct 2011	15	11	5
Nov 2011	28	7	3
Dec 2011	3	26	9
Jan 2012	9	34	4
Feb 2012	6	48	4
Mar 2012	8	31	3
Apr 2012	8	56	16
May 2012	7	41	7
Jun 2012	12	25	7
Jul 2012	7	36	8
Aug 2012	6	23	7
Sep 2012	10	25	7
Oct 2012	14	50	9
Nov 2012	10	38	6
Dec 2012	9	37	7
Jan 2013	8	32	6
Feb 2013	12	33	5
Mar 2013	9	35	17
Apr 2013	11	19	12
May 2013	11	34	3
Jun 2013	10	22	7
Jul 2013	3	17	3
Aug 2013	3	24	13
Sep 2013	4	34	19
Oct 2013	8	19	5
Nov 2013	8	26	11
Dec 2013	4	22	7
Jan 2014	10	14	8
Feb 2014	6	17	2
Mar 2014	9	34	5
Apr 2014	16	38	14
May 2014	9	20	5
Jun 2014	1	16	2
Jul 2014	9	27	2
Aug 2014	6	21	3
Sep 2014	12	31	10
Oct 2014	8	21	7
Nov 2014	7	7	2
Dec 2014	6	37	3
Jan 2015	2	10	1
Feb 2015	7	6	5
Mar 2015	12	17	11
Apr 2015	7	20	10
May 2015	14	12	9
Jun 2015	9	47	6
Jul 2015	10	17	4
Aug 2015	11	15	3
Sep 2015	13	10	4
Oct 2015	8	14	4
Nov 2015	15	20	4
Dec 2015	11	9	2
Jan 2016	11	7	6
Feb 2016	2	8	6
Mar 2016	7	11	5
Apr 2016	4	7	10
May 2016	13	14	12
Jun 2016	8	1	3
Jul 2016	8	10	5
Aug 2016	15	14	4
Sep 2016	5	10	5
Oct 2016	15	12	5
Nov 2016	7	8	6
Dec 2016	5	8	4
Jan 2017	15	18	4
Feb 2017	4	8	1
Mar 2017	10	7	4
Apr 2017	1	16	2
May 2017	1	21	1
Jun 2017	8	21	3
Jul 2017	39	34	5
Aug 2017	39	34	1
Sep 2017	25	17	3
Oct 2017	22	18	10
Nov 2017	38	26	13
Dec 2017	17	17	7
Jan 2018	30	22	3
Feb 2018	22	20	7
Mar 2018	24	18	5
Apr 2018	53	43	6
May 2018	43	31	3
Jun 2018	41	33	6
Jul 2018	29	29	3
Aug 2018	20	20	5
Sep 2018	17	17	0
Oct 2018	25	15	3
Nov 2018	45	45	4
Dec 2018	63	61	3
Jan 2019	52	47	6
Feb 2019	38	30	5
Mar 2019	27	24	6
Apr 2019	25	21	6
May 2019	28	22	9
Jun 2019	22	21	7
Jul 2019	15	13	4
Aug 2019	24	11	9
Sep 2019	26	16	10
Oct 2019	28	18	5
Nov 2019	35	27	7
Dec 2019	39	35	7
Jan 2020	27	23	10
Feb 2020	28	16	7
Mar 2020	9	9	2
Apr 2020	12	12	6
May 2020	17	11	6
Jun 2020	8	7	2
Jul 2020	15	13	14
Aug 2020	5	3	6
Sep 2020	24	20	0
Oct 2020	21	21	3
Nov 2020	23	23	7
Dec 2020	17	15	0
Jan 2021	69	64	12
Feb 2021	39	33	10
Mar 2021	37	35	10
Apr 2021	14	14	4
May 2021	28	24	13
Jun 2021	10	9	0
Jul 2021	12	12	7
Aug 2021	11	11	11
Sep 2021	20	20	10
Oct 2021	49	35	25
Nov 2021	26	18	18
Dec 2021	33	24	14
Jan 2022	48	41	24
Feb 2022	19	18	7
Mar 2022	33	27	5
Apr 2022	24	20	6
May 2022	35	27	11
Jun 2022	48	40	5
Jul 2022	20	20	2
Aug 2022	37	30	9
Sep 2022	29	27	11
Oct 2022	44	44	9
Nov 2022	61	49	11
Dec 2022	30	22	5
Jan 2023	49	35	20
Feb 2023	53	45	3
Mar 2023	52	48	20
Apr 2023	14	11	11
May 2023	28	20	13
Total	4080	5689	1997

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