Term Name: | Charcot-Marie-Tooth disease axonal type 2JJ |
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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. |
Ontology: | Human Disease [DOID:0051043] ( DOID:0051043 ) |