Article

Developmental demands contribute to early neuromuscular degeneration in CMT2D mice

2020-05-24

Abstract excerpt

Dominantly inherited, missense mutations in the widely expressed housekeeping gene, GARS1 , cause Charcot-Marie-Tooth type 2D (CMT2D), a peripheral neuropathy characterised by muscle weakness and wasting in limb extremities. Mice modelling CMT2D display early and selective neuromuscular junction (NMJ) pathology, epitomised by disturbed maturation and neurotransmission, leading to denervation. Indeed, the NMJ disr...

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Literature Corpus work: aee9ba18-6293-5486-9e5a-8ac116d992df
DOI: 10.1101/2020.05.21.106252

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