Tongue fasciculations in an infant with spinal muscular atrophy type 1

Muscular hypotonia in infants may be associated with several conditions, such as spinal muscular atrophy (SMA). We report on an infant with tongue fasciculations and a rare mutation of the SMN1 gene. The presence of tongue fasciculations in combination with a thorough history may be suggestive of SM...

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Detalles Bibliográficos
Autores principales: Giannopoulou, Eleni Z, Martin, Thomas, Wirth, Brunhilde, Yilmaz, Umut, Gortner, Ludwig, Meyer, Sascha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Ltd 2015
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4614651/
https://www.ncbi.nlm.nih.gov/pubmed/26509018
http://dx.doi.org/10.1002/ccr3.359
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author Giannopoulou, Eleni Z
Martin, Thomas
Wirth, Brunhilde
Yilmaz, Umut
Gortner, Ludwig
Meyer, Sascha
author_facet Giannopoulou, Eleni Z
Martin, Thomas
Wirth, Brunhilde
Yilmaz, Umut
Gortner, Ludwig
Meyer, Sascha
author_sort Giannopoulou, Eleni Z
collection PubMed
description Muscular hypotonia in infants may be associated with several conditions, such as spinal muscular atrophy (SMA). We report on an infant with tongue fasciculations and a rare mutation of the SMN1 gene. The presence of tongue fasciculations in combination with a thorough history may be suggestive of SMA.
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spelling pubmed-46146512015-10-27 Tongue fasciculations in an infant with spinal muscular atrophy type 1 Giannopoulou, Eleni Z Martin, Thomas Wirth, Brunhilde Yilmaz, Umut Gortner, Ludwig Meyer, Sascha Clin Case Rep Case Reports Muscular hypotonia in infants may be associated with several conditions, such as spinal muscular atrophy (SMA). We report on an infant with tongue fasciculations and a rare mutation of the SMN1 gene. The presence of tongue fasciculations in combination with a thorough history may be suggestive of SMA. John Wiley & Sons, Ltd 2015-10 2015-09-02 /pmc/articles/PMC4614651/ /pubmed/26509018 http://dx.doi.org/10.1002/ccr3.359 Text en © 2015 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Giannopoulou, Eleni Z
Martin, Thomas
Wirth, Brunhilde
Yilmaz, Umut
Gortner, Ludwig
Meyer, Sascha
Tongue fasciculations in an infant with spinal muscular atrophy type 1
title Tongue fasciculations in an infant with spinal muscular atrophy type 1
title_full Tongue fasciculations in an infant with spinal muscular atrophy type 1
title_fullStr Tongue fasciculations in an infant with spinal muscular atrophy type 1
title_full_unstemmed Tongue fasciculations in an infant with spinal muscular atrophy type 1
title_short Tongue fasciculations in an infant with spinal muscular atrophy type 1
title_sort tongue fasciculations in an infant with spinal muscular atrophy type 1
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4614651/
https://www.ncbi.nlm.nih.gov/pubmed/26509018
http://dx.doi.org/10.1002/ccr3.359
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