Imanol Amayra

Nov 22, 2024 | mdpi.com | Maddalen García-Sanchoyerto |Imanol Amayra |Alicia Rodriguez |Samuel Anguiano

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Sep 5, 2024 | mdpi.com | Imanol Amayra |Mónika Salgueiro |Samuel Anguiano |Malena Ureña

All articles published by MDPI are made immediately available worldwide under an open access license. No special permission is required to reuse all or part of the article published by MDPI, including figures and tables. For articles published under an open access Creative Common CC BY license, any part of the article may be reused without permission provided that the original article is clearly cited. For more information, please refer to https://www.mdpi.com/openaccess.

Jul 24, 2023 | mdpi.com | Alicia Rodriguez |Imanol Amayra |Irune García |Corrado Angelini

4. DiscussionTransportinopathy is a dominantly transmitted LGMD entity due to the involvement of transportin-3, which results in a muscular dystrophy due to a mutation of this nuclear-import protein, which is also known to be involved in HIV virus transport. This pathology presents a heterogeneous clinical manifestation, described for the first occasion in a large Italo-Spanish family [12].