Charcot-Marie-Tooth disease type 2B1

Definition

Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy.

Also known as AR-CMT2B1, autosomal recessive axonal CMT4C1, autosomal recessive Charcot-Marie-Tooth disease type 2B1, Charcot-Marie-Tooth disease type 2 caused by mutation in LMNA, Charcot-Marie-Tooth disease, type 2B1, CMT2B1, LMNA Charcot-Marie-Tooth disease type 2 — per MONDO

Also identified as

• DOID 0110156 per MONDO
• MESH C537990 per MONDO
• OMIM 605588 per MONDO
• Orphanet 98856 per MONDO
• SCTID 725048002 per MONDO
• UMLS C1854154 per MONDO