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Article

Transportin 3 (TNPO3) and related proteins in limb girdle muscular dystrophy D2 muscle biopsies: A morphological study and pathogenetic hypothesis.

Neuromuscular disorders : NMD - 1 Aug 2020

Costa Roberta, Rodia Maria Teresa, Vianello Sara, Santi Spartaco, Lattanzi Giovanna, Angelini Corrado, Pegoraro Elena, Cenacchi Giovanna

Abstract excerpt

LGMD D2 is a disease caused by TNPO3 mutation. We describe the expression of TNPO3 and selected proteins, likely modified by TNPO3 mutation, in muscle biopsies of affected patients. We also aim to find other genes involved in pathways correlated to TNPO3. Our morphological study on LGMD D2 muscle described the expression of TNPO3 and SRSF1, a splicing factor transported by TNPO3. Moreover, we investigated some...

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Identifiers

PMID: 32690349
DOI: 10.1016/j.nmd.2020.05.006

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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