Articles with "findings pathomechanisms" as a keyword



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LAMA2 Neuropathies: Human Findings and Pathomechanisms From Mouse Models

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Published in 2020 at "Frontiers in Molecular Neuroscience"

DOI: 10.3389/fnmol.2020.00060

Abstract: Merosin deficient Congenital Muscular Dystrophy (MDC1A), or LAMA2-related muscular dystrophy (LAMA2-RD), is a recessive disorder resulting from mutations in the LAMA2 gene, encoding for the alpha-2 chain of laminin-211. The disease is predominantly characterized by… read more here.

Keywords: mouse models; neuropathies human; findings pathomechanisms; muscular dystrophy ... See more keywords