Human genes for Machado-Joseph disease
Machado-Joseph disease [DOID:1440]
An autosomal dominant cerebellar ataxia that is characterized by slow degeneration of the hindbrain and has_material_basis_in expansion of CAG triplet repeats (glutamine) in the ATXN3 gene.
Synonyms: Machado-Joseph disease, DOID:1440, MachadoJoseph disease, Machado-Joseph disorder, Machado-Joseph syndrome ...
Linkouts: OMIM