Article
LAMA2 Neuropathies: Human Findings and Pathomechanisms From Mouse Models
23 Apr 2020
Abstract excerpt
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...
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