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.

单词	charcot-marie-tooth disease, dominant intermediate type c
释义	Charcot-Marie-Tooth disease, dominant intermediate type C 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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