Publication | Closed Access

Spinocerebellar Ataxia Type 28—Phenotypic and Molecular Characterization of a Family with Heterozygous and Compound-Heterozygous Mutations in AFG3L2

Molecular CharacterizationMolecular NeuroscienceMendelian DisorderGenetic DisorderGeneticsMolecular BiologyCompound-heterozygous MutationsDegenerative DiseaseDisease Gene IdentificationMedicineSynaptic Signaling