Charcot-Marie-Tooth disease dominant intermediate C (CMTDIC)

Introduction

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
• motor median nerve conduction velocities ranging from 25 to 45 m/sec

More general terms

• Charcot-Marie-Tooth disease

Database

• OMIM: https://mirror.omim.org/entry/608323
• UniProt: http://www.uniprot.org/uniprot/P54577.html