HIGHLIGHTS
- What: The authors report a second case of SCA 45 described from India, seventh described worldwide with different missense mutations illustrating complex genetic and phenotypic presentation with a possible correlation of patient`s extrapyramidal symptoms with her novel pathogenic heterozygous mutation at ATP-7B gene without a complete Wilson disease and ANA, Ro-52 antibody positivity to a possibly autoimmune mediated proximal myopathy.
- Who: FAT and colleagues from the Department of Neurology, Sri Ramachandra Institute of Higher Education and Research Porur, Chennai, India have published the research work: Mutation, metal and misfiring immunity: A case . . .
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