Ataxic form of autosomal recessive PEX10-related peroxisome biogenesis disorders with a novel compound heterozygous gene mutation and characteristic clinical phenotype. [electronic resource]
- Journal of the neurological sciences Apr 2017
- 424-429 p. digital
Publication Type: Journal Article
1878-5883
10.1016/j.jns.2017.02.058 doi
Adult Cerebellar Ataxia--complications DNA Mutational Analysis Family Health Female Humans Magnetic Resonance Imaging Male Mutation--genetics Peroxins Peroxisomal Disorders--complications Phenotype Receptors, Cytoplasmic and Nuclear--genetics