Charcot-Marie-Tooth disease, dominant intermediate type C

(redirected from Charcot-Marie-Tooth neuropathy-dominant intermediate C, CMTDIC)

Charcot-Marie-Tooth disease, dominant intermediate type C

A form (OMIM:608323) of Charcot-Marie-Tooth disease characterised by clinical and pathologic features that are intermediate between demyelinating and axonal peripheral neuropathies, as well as motor median nerve conduction velocities ranging from 25 to 45 m/sec.

Molecular pathology
Caused by defects in YARS, which encodes tyrosyl-tRNA synthetase, an aminoacyl-tRNA synthetase that catalyses the aminoacylation of tRNA by its cognate amino acid.
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