Charcot-Marie-Tooth disease axonal type 2JJ

Term ID

DOID:0051043

Synonyms

• axonal Charcot-Marie-Tooth disease type 2JJ

Definition

A Charcot-Marie-Tooth disease type 2 that is characterized by adult onset of distal sensory impairment and distal muscle weakness and atrophy predominantly affecting the lower limbs and that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26. https://pubmed.ncbi.nlm.nih.gov/31853710/

References

• MIM:621095

Ontology

Human Disease   ( DOID:0051043 )