Article

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

2025-08-27

Abstract excerpt

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

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Literature Corpus work: 27edaf80-01a4-54ce-be67-a783d7698f57
DOI: 10.1101/2025.08.23.671372

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