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...

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Detalles Bibliográficos
Autores principales: Angelini, Corrado, Marozzo, Roberta, Pinzan, Elena, Pegoraro, Valentina, Molnar, Maria Judit, Torella, Annalaura, Nigro, Vincenzo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2019
Materias:
Case Report
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

Internet

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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