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Charcot-Marie-Tooth disease type 2B1
Summary
- Synonym
-
- CMT2B1
- Charcot-Marie-Tooth disease neuronal type 2B1
- Charcot-Marie-Tooth neuropathy type 2B1
- autosomal recessive Charcot-Marie-Tooth disease type 2B1
- autosomal recessive axonal CMT4C1
- autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1
- Definition
- A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22.
- Super Class
- Charcot-Marie-Tooth disease type 2 autosomal recessive disease
External Links
- Disease Ontology
- DOID:0110156
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
- MGI genotype (from TogoID)
