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A new family with transportinopathy: increased clinical heterogeneity
We describe a family with a novel TNPO3 mutation of limb–girdle muscular dystrophy D2 (or LGMD 1F), a rare muscle disorder with autosomal dominant inheritance, first identified in an Italo-Spanish family where the causative defect has been found to be due to TNPO3 gene mutation, encoding transportin...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
SAGE Publications
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6558532/ https://www.ncbi.nlm.nih.gov/pubmed/31217819 http://dx.doi.org/10.1177/1756286419850433 |
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author | Angelini, Corrado Marozzo, Roberta Pinzan, Elena Pegoraro, Valentina Molnar, Maria Judit Torella, Annalaura Nigro, Vincenzo |
author_facet | Angelini, Corrado Marozzo, Roberta Pinzan, Elena Pegoraro, Valentina Molnar, Maria Judit Torella, Annalaura Nigro, Vincenzo |
author_sort | Angelini, Corrado |
collection | PubMed |
description | We describe a family with a novel TNPO3 mutation of limb–girdle muscular dystrophy D2 (or LGMD 1F), a rare muscle disorder with autosomal dominant inheritance, first identified in an Italo-Spanish family where the causative defect has been found to be due to TNPO3 gene mutation, encoding transportin-3 protein (TNPO3). We present the clinical, histopathological and muscle magnetic resonance imaging (MRI) features in two patients, mother and son Hungarian origin, affected by LGMD D2 and correlate their clinical, MRI and histopathological data found in this condition. The affected son presented early pelvic girdle muscle weakness and thin muscles similar to a congenital myopathy; the mother was less compromised and had an LGMD phenotype. Muscle MRI showed a very pronounced lower limb muscle atrophy in both patients. The most relevant change obtained in the child muscle biopsy was a generalized type 1 fibre atrophy. The two patients presented the same mutation, but a different phenotype has been observed in mother and son. |
format | Online Article Text |
id | pubmed-6558532 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | SAGE Publications |
record_format | MEDLINE/PubMed |
spelling | pubmed-65585322019-06-19 A new family with transportinopathy: increased clinical heterogeneity Angelini, Corrado Marozzo, Roberta Pinzan, Elena Pegoraro, Valentina Molnar, Maria Judit Torella, Annalaura Nigro, Vincenzo Ther Adv Neurol Disord Case Report We describe a family with a novel TNPO3 mutation of limb–girdle muscular dystrophy D2 (or LGMD 1F), a rare muscle disorder with autosomal dominant inheritance, first identified in an Italo-Spanish family where the causative defect has been found to be due to TNPO3 gene mutation, encoding transportin-3 protein (TNPO3). We present the clinical, histopathological and muscle magnetic resonance imaging (MRI) features in two patients, mother and son Hungarian origin, affected by LGMD D2 and correlate their clinical, MRI and histopathological data found in this condition. The affected son presented early pelvic girdle muscle weakness and thin muscles similar to a congenital myopathy; the mother was less compromised and had an LGMD phenotype. Muscle MRI showed a very pronounced lower limb muscle atrophy in both patients. The most relevant change obtained in the child muscle biopsy was a generalized type 1 fibre atrophy. The two patients presented the same mutation, but a different phenotype has been observed in mother and son. SAGE Publications 2019-06-09 /pmc/articles/PMC6558532/ /pubmed/31217819 http://dx.doi.org/10.1177/1756286419850433 Text en © The Author(s), 2019 http://www.creativecommons.org/licenses/by-nc/4.0/ This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (http://www.creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (https://us.sagepub.com/en-us/nam/open-access-at-sage). |
spellingShingle | Case Report Angelini, Corrado Marozzo, Roberta Pinzan, Elena Pegoraro, Valentina Molnar, Maria Judit Torella, Annalaura Nigro, Vincenzo A new family with transportinopathy: increased clinical heterogeneity |
title | A new family with transportinopathy: increased clinical
heterogeneity |
title_full | A new family with transportinopathy: increased clinical
heterogeneity |
title_fullStr | A new family with transportinopathy: increased clinical
heterogeneity |
title_full_unstemmed | A new family with transportinopathy: increased clinical
heterogeneity |
title_short | A new family with transportinopathy: increased clinical
heterogeneity |
title_sort | new family with transportinopathy: increased clinical
heterogeneity |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6558532/ https://www.ncbi.nlm.nih.gov/pubmed/31217819 http://dx.doi.org/10.1177/1756286419850433 |
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