Shared mechanisms and pathological phenotypes underlying aminoacyl-tRNA synthetase-related neuropathies
Elena R.Rhymes
James N.Sleigh
Abstract：Charcot-Marie-Tooth disease (CMT) is a heterogeneous group of inherited peripheral neuropathies; it is characterized by muscle weakness and wasting, as well as sensory dysfunction, that typically begins during adolescence and ultimately leads to lifelong disability. Occurring in ~1 in 2500 individuals, CMT is the most common hereditary neuromuscular condition and results from mutations in >100 different genes. CMT is grouped into type 1 (CMT1), where demyelination and loss of nerve conduction velocity occur, type 2 (CMT2), where motor and sensory axons degenerate without loss of myelination/nerve conduction velocity, and intermediate CMT, where both demyelination and axon loss present alongside intermediate nerve conduction velocities.
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Publication Date：2026-01-30
Online Publishing Date：2025-12-11(First online date of this platform, not the publication date of the document)
Pages：2( 312-313 )