Mutational spectrum of Duchenne muscular dystrophy in Spain: study of 284 cases

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Original article

Espectro mutacional de la distrofia muscular de Duchenne en España: estudio de 284 casos

I. Vieiteza,b, P. Gallanoc,j, L. González-Queredac,j, S. Borregod,j, I. Marcosd,j, J.M. Milláne,j, T. Jairoe,j, C. Priorf, J. Molanof, M.J. Trujillo-Tiebasg,j, J. Gallego-Merlog,j, M. García-Barcinah, M. Fenollari, C. Navarrob,

Corresponding author

cnavfer@sergas.es

Corresponding author.

a Grupo de Patología Neonatal y Pediátrica, Enfermedades raras, Instituto de Investigación Biomédica de Ourense-Pontevedra-Vigo (IBI), Vigo, Spain

b Complexo Hospitalario Universitario de Vigo (CHUVI), SERGAS, Vigo, Spain

c Departamento de Genética, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain

d Departamento de Genética, Reproducción y Medicina fetal, Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Sevilla, Spain

e Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario La Fe, Valencia, Spain

f Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, Madrid, Spain

g Departamento de Genética, Hospital Universitario Fundación Jiménez Díaz, Madrid, Spain

h Unidad de Genética, Hospital Universitario de Basurto, Vizcaya, Spain

i Sección de Genética Clínica, Servicio de Análisis Clínicos, Hospital Clínico San Carlos, Madrid, Spain

j CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), Instituto de Salud Carlos III, Madrid, Spain

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Article information

ISSN: 21735808
Original language: English

DOI:10.1016/j.nrleng.2015.12.004

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2024 May	18	2	20
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2024 February	122	19	141
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2023 December	133	47	180
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2023 October	123	59	182
2023 September	60	31	91
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2023 June	83	28	111
2023 May	93	33	126
2023 April	80	29	109
2023 March	73	60	133
2023 February	39	38	77
2023 January	25	26	51
2022 December	43	19	62
2022 November	55	34	89
2022 October	51	26	77
2022 September	42	21	63
2022 August	62	27	89
2022 July	30	18	48
2022 June	40	19	59
2022 May	50	13	63
2022 April	36	18	54
2022 March	58	21	79
2022 February	62	17	79
2022 January	91	15	106
2021 December	72	27	99
2021 November	52	21	73
2021 October	82	22	104
2021 September	108	25	133
2021 August	70	21	91
2021 July	51	12	63
2021 June	46	9	55
2021 May	101	20	121
2021 April	167	18	185
2021 March	97	13	110
2021 February	80	6	86
2021 January	87	18	105
2020 December	76	14	90
2020 November	46	15	61
2020 October	47	12	59
2020 September	52	16	68
2020 August	66	9	75
2020 July	71	21	92
2020 June	65	27	92
2020 May	57	14	71
2020 April	46	8	54
2020 March	64	23	87
2020 February	61	16	77
2020 January	62	13	75
2019 December	63	24	87
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2019 September	48	19	67
2019 August	39	15	54
2019 July	45	16	61
2019 June	59	34	93
2019 May	143	61	204
2019 April	94	40	134
2019 March	19	8	27
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2018 August	10	5	15
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2018 June	22	4	26
2018 May	22	12	34
2018 April	9	13	22
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