Charcot-Marie-Tooth disease type 4C (CMT4C)

Introduction

Also see Charcot-Marie-Tooth disease

Pathology

• demyelination of motor & sensory neurons
• distinct Schwann cell pathology

Genetics

• autosomal recessive
• associated with defects in SH3TC2 gene

Clinical manifestations

• childhood-onset
• early-onset scoliosis

More general terms

• Charcot-Marie-Tooth disease type 4 (CMT4)

Database

• OMIM: https://mirror.omim.org/entry/601596