Artículo
Co-segregation of a homozygous SMN1 deletion and a heterozygous PMP22 duplication in a patient
Autor/es | Fernández, Raquel María
Peciña, Ana Muñoz-Cabello, Beatriz Antiñolo Gil, Guillermo Borrego, Salud |
Departamento | Universidad de Sevilla. Departamento de Cirugía |
Fecha de publicación | 2016-07-03 |
Fecha de depósito | 2021-06-21 |
Publicado en |
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Resumen | Despite co-segregation of two different genetic neurological disorders within a
family is rare, clinicians should take into consideration this possibility in
patients presenting with unusual complex phenotypes or with ... Despite co-segregation of two different genetic neurological disorders within a family is rare, clinicians should take into consideration this possibility in patients presenting with unusual complex phenotypes or with unexpected electrophysiological findings. Here, we report a Spanish 11-month-old patient with spinal muscular atrophy type 2 and Charcot-Marie-Tooth 1A. |
Cita | Fernández, R.M., Peciña, A., Muñoz-Cabello, B., Antiñolo Gil, G. y Borrego, S. (2016). Co-segregation of a homozygous SMN1 deletion and a heterozygous PMP22 duplication in a patient. Clinical Case Reports, 4 (9), 879-884. |
Ficheros | Tamaño | Formato | Ver | Descripción |
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Co-segregation of a homozygous.pdf | 2.325Mb | [PDF] | Ver/ | Co-segregation of a homozygous |