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Article

Drosophila Models for Charcot-Marie-Tooth Neuropathy Related to Aminoacyl-tRNA Synthetases.

Genes - 27 Sept 2021

Morant Laura, Erfurth Maria-Luise, Jordanova Albena

Abstract excerpt

Aminoacyl-tRNA synthetases (aaRS) represent the largest cluster of proteins implicated in Charcot-Marie-Tooth neuropathy (CMT), the most common neuromuscular disorder. Dominant mutations in six aaRS cause different axonal CMT subtypes with common clinical characteristics, including progressive distal muscle weakness and wasting, impaired sensory modalities, gait problems and skeletal deformities. These clinical...

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PMID: 34680913
DOI: 10.3390/genes12101519
PMCID: PMC8536177

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