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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...
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| Publicado no: | Ther Adv Neurol Disord |
|---|---|
| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
SAGE Publications
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6558532/ https://ncbi.nlm.nih.gov/pubmed/31217819 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/1756286419850433 |
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