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Article

Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F.

PloS one - 1 Jan 2013

Torella Annalaura, Fanin Marina, Mutarelli Margherita, Peterle Enrico, Del Vecchio Blanco Francesca, Rispoli Rossella, Savarese Marco, Garofalo Arcomaria, Piluso Giulio, Morandi Lucia, Ricci Giulia, Siciliano Gabriele, Angelini Corrado, Nigro Vincenzo

Abstract excerpt

Limb-girdle muscular dystrophies (LGMD) are genetically and clinically heterogeneous conditions. We investigated a large family with autosomal dominant transmission pattern, previously classified as LGMD1F and mapped to chromosome 7q32. Affected members are characterized by muscle weakness affect...

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Source

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Identifiers

PMID: 23667635
DOI: 10.1371/journal.pone.0063536
PMCID: PMC3646821

Genes

TNPO3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23667635-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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