Charcot-Marie-Tooth disease type 2B; hereditary motor & sensory neuropathy 2 (CMT2B, HMSN2)

Pathology

• see Charcot-Marie-Tooth disease type-2

Genetics

• autosomal dominant
• associated with defects in RAB7A

Clinical manifestations

• marked distal muscle weakness
• high frequency of foot ulcers, infections & amputations of the toes

More general terms

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

Database

• OMIM: https://mirror.omim.org/entry/600882