Charcot-Marie-Tooth disease type 4B1

Term ID

DOID:0110191

Synonyms

• autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B1
• Charcot-Marie-Tooth neuropathy type 4B1
• CMT4B1

Definition

A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding the myotubularin-related protein-2 (MTMR2). https://www.ncbi.nlm.nih.gov/pubmed/10802647

References

• ICD10CM:G60.0
• MESH:C535420
• OMIM:601382
• ORDO:99955

Ontology

Human Disease   ( DOID:0110191 )