Irune García

Apr 3, 2024 | mdpi.com | Irune García |Alicia Rodriguez |Corrado Angelini |Maddalen García-Sanchoyerto

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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].