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Article

Novel Biomarkers for Limb Girdle Muscular Dystrophy (LGMD).

Cells - 10 Feb 2024

Aguti Sara, Gallus Gian Nicola, Bianchi Silvia, Salvatore Simona, Rubegni Anna, Berti Gianna, Formichi Patrizia, De Stefano Nicola, Malandrini Alessandro, Lopergolo Diego

Abstract excerpt

OBJECTIVE: To identify novel biomarkers as an alternative diagnostic tool for limb girdle muscular dystrophy (LGMD). BACKGROUND: LGMD encompasses a group of muscular dystrophies characterized by proximal muscles weakness, elevated CK levels and dystrophic findings on muscle biopsy. Heterozygous CAPN3 mutations are associated with autosomal dominant LGMD-4, while biallelic mutations can cause autosomal recessive...

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Identifiers

PMID: 38391941
DOI: 10.3390/cells13040329
PMCID: PMC10886967

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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