| Metadata | |
|---|---|
| ID | DOID:0051043 |
| Name | Charcot-Marie-Tooth disease axonal 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/ |
| Xrefs | |
| Synonyms |
axonal Charcot-Marie-Tooth disease type 2JJ [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
existence starts during some Adult onset has material basis in some autosomal dominant inheritance |