A novel inborn error of the Coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-Methyltransferase deficiency

Malicdan M; Vilboux T; Ben Zeev B; Guo J; Eliyahu A; Pode Shakked B; Dori A; Kakani S; Chandrasekharappa S; Ferreira C; Shelestovich N; Marek Yagel D; Pri Chen H; Blat I; Niederhuber J; Toro C; Deeken J; Yardeni T; Wallace D; Gahl W; Anikster Y

doi:10.1016/j.nmd.2017.06.302

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A novel inborn error of the Coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-Methyltransferase deficiency

作者：Malicdan M; Vilboux T; Ben Zeev B; Guo J; Eliyahu A; Pode Shakked B; Dori A; Kakani S; Chandrasekharappa S; Ferreira C; Shelestovich N; Marek Yagel D; Pri Chen H; Blat I; Niederhuber J; Toro C; Deeken J; Yardeni T; Wallace D; Gahl W; Anikster Y

来源：22nd International Annual Congress of the World-Muscle-Society (WMS), 2017-10-03 To 2017-10-07.

DOI：10.1016/j.nmd.2017.06.302