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Charcot-Marie-Tooth disease dominant intermediate C (CMTDIC)
Also see Charcot-Marie-Tooth disease
Pathology:
- peripheral (axonal) neuropathy
- intermediate between demyelinating & axonal peripheral neuropathies
Genetics:
- chromosomal aberration in YARS (tyrosyl-tRNA synthetase) gene
Laboratory:
- nerve conduction studies
1) motor median nerve conduction velocities ranging from 25 to 45 m/sec
Database Correlations
OMIM 608323
UniProt P54577
References
UniProt :accession P54577