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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Bibliographic Details
Main Authors: Anna Sarkozy, A. Reghan Foley, Alberto A. Zambon, Carsten G. Bönnemann, Francesco Muntoni
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-08-01
Series:Frontiers in Molecular Neuroscience
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Online Access:https://www.frontiersin.org/article/10.3389/fnmol.2020.00123/full