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.

中文翻译：

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LAMA2神经病：小鼠模型的人类发现和病理机制。

缺乏肌球蛋白的先天性肌营养不良症（MDC1A）或LAMA2相关的肌营养不良症（LAMA2-RD）是一种隐性疾病，由LAMA2基因的突变导致，该基因编码层粘连蛋白211的α-2链。该疾病的主要特征是进行性肌营养不良症会影响患者的运动功能并缩短预期寿命。然而，除了脑部异常外，LAMA2-RD还包括与发育相关的神经鞘异常性神经病变，该疾病可导致疾病进展。后者经常被低估。在这篇简短的综述中，我们提出了支持LAMA2-RD表型周围神经病变影响的数据，包括小鼠模型和人体研究。我们讨论了神经异常和参与层粘连蛋白211通路（影响轴突分选）的分子机制，鞘和髓鞘化。最后，我们对神经再生的后果和潜在的治疗策略进行了最后的考虑。