Term Name: Charcot-Marie-Tooth disease axonal type 2JJ
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 )

Relationships
is a type of: autosomal dominant disease Charcot-Marie-Tooth disease type 2