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Ciara, E. et al. Molecular Genetics and Metabolism Reports.

Ciara, E. et al. Molecular Genetics and Metabolism Reports. 2016 Jun

E. Ciara and colleagues conduct a study to assess the diagnostic value of biochemical methods in recognition of Pyruvate dehydrogenase complex (PDHc) defect in Polish patients with suspicion of mitochondrial disorders (MD). They also conducted whole exome sequencing and identified seven different PDHA1 changes, including two novel variants [c.464T > C (p.Met155Thr) and c.856_859dupACTT (p.Arg288Leufs*10)] and one DLD variant.



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JO MARTINDALE

Wellington Regional Genetics Laboratory, Wellington, New Zealand