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LAMA2-Related Dystrophies: Clinical Phenotypes, Disease Biomarkers, and Clinical Trial Readiness
Mutations in the LAMA2 gene affect the production of the α2 subunit of laminin-211 (= merosin) and result in either partial or complete laminin-211 deficiency. Complete merosin deficiency is typically associated with a more severe congenital muscular dystrophy (CMD), clinically manifested by hypoton...
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| Izdano u: | Front Mol Neurosci |
|---|---|
| Glavni autori: | , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Frontiers Media S.A.
2020
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7419697/ https://ncbi.nlm.nih.gov/pubmed/32848593 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fnmol.2020.00123 |
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