Charcot-Marie-Tooth disease type 1A; hereditary motor & sensory neuropathy 1A (CMT1A)

Introduction

see Charcot-Marie-Tooth disease type 1

Genetics

• autosomal dominant
• associated with defects in PMP22

Laboratory

• PMS2 gene deletion, duplication & mutation analysis

More general terms

• Charcot-Marie-Tooth disease type 1

Patient information

Charcot-Marie-Tooth disease type 1A patient information

Database

• OMIM: https://mirror.omim.org/entry/118220
• OMIM: https://mirror.omim.org/entry/601097