Charcot-Marie-Tooth disease dominant intermediate B (CMTDIB)

Introduction

Also see Charcot-Marie-Tooth disease

Pathology

• peripheral (axonal) neuropathy
• intermediate between demyelinating & axonal peripheral neuropathies

Genetics

• associated with defects in DNM2

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/606482
• UniProt: http://www.uniprot.org/uniprot/P50570.html