Charcot-Marie-Tooth disease type 2B1

Term ID

DOID:0110156

Synonyms

• autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1
• autosomal recessive axonal CMT4C1
• autosomal recessive Charcot-Marie-Tooth disease type 2B1
• Charcot-Marie-Tooth disease neuronal type 2B1
• Charcot-Marie-Tooth neuropathy type 2B1
• CMT2B1

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. https://www.ncbi.nlm.nih.gov/pubmed/11799477

References

• ICD10CM:G60.0
• MESH:C537990
• OMIM:605588
• ORDO:98856

Ontology

Human Disease   ( DOID:0110156 )