Charcot-Marie-Tooth disease type 2J (CMT2J)

Introduction

see Charcot-Marie-Tooth disease type 2

Genetics

• autosomal dominant
• associated with defects in MPZ gene

Clinical manifestations

• axonal peripheral neuropathy
• hearing loss
• pupillary abnormalities such as Adie pupil

More general terms

• Charcot-Marie-Tooth disease type 2 (CMT2)

Database

• OMIM: https://mirror.omim.org/entry/607736