PEX7 Mutations Cause Congenital Cataract Retinopathy and Late-Onset Ataxia and Cognitive Impairment: Report of Two Siblings and Review of the Literature

J Clin Neurol. 2015 Apr;11(2):197-9. doi: 10.3988/jcn.2015.11.2.197.

Authors

Lorenzo Nanetti¹, Viviana Pensato¹, Valerio Leoni¹, Manuela Rizzetto¹, Claudio Caccia¹, Franco Taroni¹, Caterina Mariotti², Cinzia Gellera¹

Affiliations

¹ Unit of Genetics of Neurodegenerative and Metabolic Diseases, IRCCS Fondazione Istituto Neurologico Carlo Besta, Milano, Italy.
² Unit of Genetics of Neurodegenerative and Metabolic Diseases, IRCCS Fondazione Istituto Neurologico Carlo Besta, Milano, Italy. [email protected].

No abstract available