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Article

Muscle transcriptome profiling reveals novel molecular pathways and biomarkers in laminin-α2 deficient patients.

Acta neuropathologica communications - 3 Feb 2026

Pini Veronica, Catapano Francesco, Bonaccorso Rosa, Weisburd Ben, Previtali Stefano C, Muntoni Francesco

Abstract excerpt

Merosin-deficient congenital muscular dystrophy (LAMA2-RD) is a neuromuscular disorder caused by mutations in the LAMA2 gene, coding for the α2 subunit of laminin-211 (merosin). LAMA2 mutations leading to complete laminin-211 absence result in a severe clinical phenotype with profound muscle weakness and respiratory insufficiency, whereas mutations allowing the production of a partially functional protein are...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41630090
DOI: 10.1186/s40478-026-02227-9
PMCID: PMC12955283

Genes

LAMA2
PF4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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