Co‐segregation of a homozygous SMN1 deletion and a heterozygous PMP22 duplication in a patient

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 p...

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Autores principales: Fernández, Raquel M., Peciña, Ana, Muñoz‐Cabello, Beatriz, Antiñolo, Guillermo, Borrego, Salud
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5018594/
https://www.ncbi.nlm.nih.gov/pubmed/27648268
http://dx.doi.org/10.1002/ccr3.645
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author Fernández, Raquel M.
Peciña, Ana
Muñoz‐Cabello, Beatriz
Antiñolo, Guillermo
Borrego, Salud
author_facet Fernández, Raquel M.
Peciña, Ana
Muñoz‐Cabello, Beatriz
Antiñolo, Guillermo
Borrego, Salud
author_sort Fernández, Raquel M.
collection PubMed
description 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.
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spelling pubmed-50185942016-09-19 Co‐segregation of a homozygous SMN1 deletion and a heterozygous PMP22 duplication in a patient Fernández, Raquel M. Peciña, Ana Muñoz‐Cabello, Beatriz Antiñolo, Guillermo Borrego, Salud Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2016-08-09 /pmc/articles/PMC5018594/ /pubmed/27648268 http://dx.doi.org/10.1002/ccr3.645 Text en © 2016 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution (http://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Fernández, Raquel M.
Peciña, Ana
Muñoz‐Cabello, Beatriz
Antiñolo, Guillermo
Borrego, Salud
Co‐segregation of a homozygous SMN1 deletion and a heterozygous PMP22 duplication in a patient
title Co‐segregation of a homozygous SMN1 deletion and a heterozygous PMP22 duplication in a patient
title_full Co‐segregation of a homozygous SMN1 deletion and a heterozygous PMP22 duplication in a patient
title_fullStr Co‐segregation of a homozygous SMN1 deletion and a heterozygous PMP22 duplication in a patient
title_full_unstemmed Co‐segregation of a homozygous SMN1 deletion and a heterozygous PMP22 duplication in a patient
title_short Co‐segregation of a homozygous SMN1 deletion and a heterozygous PMP22 duplication in a patient
title_sort co‐segregation of a homozygous smn1 deletion and a heterozygous pmp22 duplication in a patient
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5018594/
https://www.ncbi.nlm.nih.gov/pubmed/27648268
http://dx.doi.org/10.1002/ccr3.645
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