New Findings in a Global Approach to Dissect the Whole Phenotype of PLA2G6 Gene Mutations

@inproceedings{Salih2013NewFI,
  title={New Findings in a Global Approach to Dissect the Whole Phenotype of PLA2G6 Gene Mutations},
  author={Mustafa A Salih and Emeline Mundwiller and A O Khan and Abdulmajeed Abdurrahman Aldrees and Salah A. Elmalik and Hamdy H. Hassan and Mohammed A. Al-Owain and Hisham Alkhalidi and Istvan Katona and Mohammad M U Kabiraj and Roman Chrast and Amal Y. Kentab and Hamad I. Alzaidan and Richard R J Rodenburg and Thomas M. Bosley and Joachim Weis and Michel Koenig and Giovanni Stevanin and Hamid Azzedine},
  booktitle={PloS one},
  year={2013}
}
Mutations in PLA2G6 gene have variable phenotypic outcome including infantile neuroaxonal dystrophy, atypical neuroaxonal dystrophy, idiopathic neurodegeneration with brain iron accumulation and Karak syndrome. The cause of this phenotypic variation is so far unknown which impairs both genetic diagnosis and appropriate family counseling. We report detailed clinical, electrophysiological, neuroimaging, histologic, biochemical and genetic characterization of 11 patients, from 6 consanguineous… CONTINUE READING

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