Compound Heterozygous Inheritance of Mutations in Coenzyme Q8A Results in Autosomal Recessive Cerebellar Ataxia and Coenzyme Q10 Deficiency in a Female Sib-Pair

Jessie C. Jacobsen, Whitney Whitford, Brendan Swan, Juliet Taylor, Donald R. Love, R. Sean Hill, Sarah L. Molyneux, Peter M. George, Richard Mackay, Stephen P. Robertson,

JIMD Reports · 2017 · 24 citations · 28 references

Concepts

References

28