Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression.

R Tupler; L Barbierato; M Memmi; C A Sewry; D De Grandis; P Maraschio; L Tiepolo; A Ferlini

doi:10.1136/jmg.35.9.778

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Research Article

Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression.

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	Abstract	Full	Pdf
Nov 1999	1	0	0
Dec 1999	1	0	0
Feb 2000	1	0	0
Apr 2000	3	0	0
Jul 2000	1	0	0
Oct 2000	1	0	0
Nov 2000	2	0	0
Dec 2000	1	0	0
Apr 2001	1	0	0
May 2001	1	0	0
Mar 2002	1	0	0
May 2002	2	0	0
Jan 2003	1	0	0
Apr 2003	1	0	0
Jul 2003	2	0	0
Aug 2003	6	0	0
Sep 2003	6	0	0
Oct 2003	3	0	0
Nov 2003	7	0	0
Dec 2003	8	0	0
Jan 2004	12	0	0
Feb 2004	6	0	0
Mar 2004	11	0	0
Apr 2004	7	0	0
May 2004	5	0	0
Jun 2004	4	0	0
Jul 2004	12	0	0
Aug 2004	6	0	0
Sep 2004	3	0	0
Oct 2004	7	0	0
Nov 2004	5	0	0
Dec 2004	3	0	0
Jan 2005	4	0	0
Feb 2005	3	0	0
Mar 2005	4	0	0
Apr 2005	1	0	0
May 2005	1	0	0
Jul 2005	1	0	0
Sep 2005	2	0	0
Dec 2005	1	0	0
Jan 2006	3	0	0
Feb 2006	1	0	0
Mar 2006	4	0	0
Apr 2006	2	0	0
May 2006	4	0	0
Jun 2006	2	0	0
Aug 2006	5	0	0
Oct 2006	1	0	0
Dec 2006	1	0	0
Jan 2007	6	0	0
Mar 2007	3	0	0
Apr 2007	1	0	0
May 2007	1	0	0
Jun 2007	2	0	0
Aug 2007	2	0	0
Sep 2007	1	0	0
Oct 2007	1	0	0
Nov 2007	1	0	0
Feb 2008	2	0	0
Mar 2008	4	0	0
Apr 2008	1	0	0
May 2008	1	0	0
Jun 2008	1	0	0
Aug 2008	2	0	0
Sep 2008	6	0	0
Oct 2008	1	0	0
Nov 2008	3	0	0
Jan 2009	1	0	1
Feb 2009	2	0	1
Mar 2009	3	0	1
Apr 2009	0	0	2
Jun 2009	2	0	2
Jul 2009	3	0	2
Aug 2009	6	0	0
Sep 2009	2	0	1
Oct 2009	4	0	0
Nov 2009	6	0	1
Dec 2009	6	0	2
Jan 2010	4	0	2
Feb 2010	2	0	0
Mar 2010	1	0	0
Apr 2010	5	0	3
May 2010	2	0	0
Jun 2010	6	0	5
Jul 2010	4	0	4
Sep 2010	2	0	1
Oct 2010	2	0	1
Nov 2010	3	0	0
Dec 2010	1	0	2
Jan 2011	1	0	0
Feb 2011	1	0	0
Mar 2011	1	0	0
Apr 2011	2	0	1
May 2011	4	0	0
Jun 2011	2	0	0
Jul 2011	1	0	1
Aug 2011	0	0	3
Sep 2011	1	0	0
Oct 2011	1	0	0
Nov 2011	1	0	1
Dec 2011	2	0	3
Jan 2012	4	0	2
Feb 2012	2	0	0
Mar 2012	1	0	0
Apr 2012	2	0	2
May 2012	10	0	3
Jun 2012	1	0	6
Jul 2012	2	0	5
Aug 2012	6	0	2
Sep 2012	6	0	5
Oct 2012	5	0	3
Nov 2012	6	0	1
Dec 2012	8	0	6
Jan 2013	19	0	3
Feb 2013	1	0	0
Mar 2013	3	0	5
Apr 2013	2	0	4
May 2013	8	0	7
Jun 2013	1	0	0
Jul 2013	7	0	1
Aug 2013	1	0	0
Sep 2013	2	0	0
Oct 2013	3	0	0
Nov 2013	7	0	1
Dec 2013	8	0	0
Jan 2014	5	0	0
Feb 2014	8	0	1
Mar 2014	5	0	0
Apr 2014	8	1	3
May 2014	6	1	1
Jun 2014	10	0	1
Jul 2014	18	3	2
Aug 2014	5	1	3
Sep 2014	4	1	0
Oct 2014	6	3	1
Nov 2014	4	2	0
Dec 2014	5	0	2
Jan 2015	1	0	3
Feb 2015	7	0	6
Mar 2015	14	0	6
Apr 2015	4	0	4
May 2015	2	0	0
Jun 2015	19	0	6
Jul 2015	8	0	3
Sep 2015	8	0	0
Oct 2015	2	0	3
Nov 2015	7	0	2
Dec 2015	2	0	0
Jan 2016	7	0	2
Feb 2016	9	0	0
Mar 2016	6	0	5
Apr 2016	6	0	5
May 2016	5	0	5
Jun 2016	8	0	5
Jul 2016	5	0	0
Aug 2016	13	0	1
Sep 2016	43	0	3
Oct 2016	35	0	1
Nov 2016	63	0	0
Dec 2016	26	0	0
Jan 2017	42	0	2
Feb 2017	32	0	0
Mar 2017	45	0	0
Apr 2017	33	0	0
May 2017	11	0	0
Jun 2017	12	0	1
Jul 2017	13	0	0
Aug 2017	31	0	4
Sep 2017	30	0	2
Oct 2017	22	0	2
Nov 2017	22	0	0
Dec 2017	22	0	1
Jan 2018	14	0	0
Feb 2018	18	0	3
Mar 2018	20	0	1
Apr 2018	22	0	1
May 2018	36	0	0
Jun 2018	36	0	1
Jul 2018	24	0	0
Aug 2018	26	0	2
Sep 2018	32	0	2
Oct 2018	30	0	1
Nov 2018	24	0	0
Dec 2018	34	0	5
Jan 2019	40	0	3
Feb 2019	18	0	4
Mar 2019	37	0	5
Apr 2019	16	0	6
May 2019	20	0	2
Jun 2019	24	0	7
Jul 2019	17	0	7
Aug 2019	30	0	5
Sep 2019	14	0	1
Oct 2019	26	0	4
Nov 2019	8	0	8
Dec 2019	32	0	4
Jan 2020	58	0	2
Feb 2020	82	0	4
Mar 2020	50	0	3
Apr 2020	101	0	3
May 2020	118	0	1
Jun 2020	56	0	7
Jul 2020	30	0	2
Aug 2020	14	0	7
Sep 2020	34	0	4
Oct 2020	52	0	12
Nov 2020	12	0	5
Dec 2020	28	0	4
Jan 2021	20	0	3
Feb 2021	20	0	6
Mar 2021	14	0	1
Apr 2021	6	0	8
May 2021	2	0	4
Jun 2021	0	0	2
Jul 2021	0	0	7
Aug 2021	0	0	9
Sep 2021	0	0	7
Oct 2021	6	0	21
Nov 2021	8	0	15
Dec 2021	10	0	7
Jan 2022	14	0	6
Feb 2022	13	0	8
Mar 2022	17	0	3
Apr 2022	26	0	5
May 2022	40	0	6
Jun 2022	48	0	6
Jul 2022	22	0	3
Aug 2022	60	0	5
Sep 2022	32	0	8
Oct 2022	60	0	13
Nov 2022	24	0	9
Dec 2022	18	0	6
Jan 2023	24	0	8
Feb 2023	54	0	6
Mar 2023	14	0	9
Apr 2023	16	0	10
May 2023	6	0	10
Jun 2023	14	0	3
Jul 2023	12	0	5
Aug 2023	16	0	6
Sep 2023	2	0	2
Oct 2023	22	0	3
Nov 2023	8	0	0
Dec 2023	28	0	1
Jan 2024	14	0	1
Feb 2024	42	0	4
Mar 2024	134	0	1
Total	3207	12	545

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