Fernández, Raquel MaríaPeciña, AnaMuñoz-Cabello, BeatrizAntiñolo Gil, GuillermoBorrego, Salud2021-06-212021-06-212016-07-03Fernández, 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), 879-884.2050-0904 (electrónico)https://hdl.handle.net/11441/114708Despite 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.application/pdf6engAttribution-NonCommercial-NoDerivatives 4.0 Internacionalhttp://creativecommons.org/licenses/by-nc-nd/4.0/Charcot-Marie-Tooth 1ACo-segregationDouble-trouble casesGenetic analysisSpinal muscular atrophyCo-segregation of a homozygous SMN1 deletion and a heterozygous PMP22 duplication in a patientinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/openAccesshttps://doi.org/10.1002/ccr3.645