Matches in SemOpenAlex for { <https://semopenalex.org/work/W3018219574> ?p ?o ?g. }
- W3018219574 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 progressive muscular dystrophy affecting patient motor function and reducing life expectancy. However, LAMA2-RD also comprises a developmentally-associated dysmyelinating neuropathy that contributes to the disease progression, in addition to brain abnormalities; the latter often underappreciated. In this brief review, we present data supporting the impact of peripheral neuropathy in the LAMA2-RD phenotype, including both mouse models and human studies. We discuss the molecular mechanisms underlying nerve abnormalities and involved in the laminin-211 pathway, which affects axon sorting, ensheathing and myelination. We conclude with some final considerations of consequences on nerve regeneration and potential therapeutic strategies." @default.
- W3018219574 created "2020-05-01" @default.
- W3018219574 creator A5058039505 @default.
- W3018219574 creator A5065855264 @default.
- W3018219574 date "2020-04-23" @default.
- W3018219574 modified "2023-10-10" @default.
- W3018219574 title "LAMA2 Neuropathies: Human Findings and Pathomechanisms From Mouse Models" @default.
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