Compound Heterozygous Inheritance of Mutations in Coenzyme Q8A Results in Autosomal Recessive Cerebellar Ataxia and Coenzyme Q10 Deficiency in a Female Sib-Pair-Reference-Cited by-同舟云学术

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

Published:2017 Issue: Volume: Page:31-36
ISSN:2192-8304
Container-title:JIMD Reports
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Author:

Jacobsen Jessie C.,Whitford Whitney,Swan Brendan,Taylor Juliet,Love Donald R.,Hill Rosamund,Molyneux Sarah,George Peter M.,Mackay Richard,Robertson Stephen P.,Snell Russell G.,Lehnert Klaus

Publisher

Springer Berlin Heidelberg

Link

http://link.springer.com/content/pdf/10.1007/8904_2017_73

Reference33 articles.

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2. Aure K, Benoist JF, Ogier de Baulny H, Romero NB, Rigal O, Lombes A (2004) Progression despite replacement of a myopathic form of coenzyme Q10 defect. Neurology 63:727–729

3. Barca E, Musumeci O, Montagnese F et al (2016) Cerebellar ataxia and severe muscle CoQ10 deficiency in a patient with a novel mutation in ADCK3. Clin Genet 90:156–160

4. Blumkin L, Leshinsky-Silver E, Zerem A, Yosovich K, Lerman-Sagie T, Lev D (2014) Heterozygous mutations in the ADCK3 gene in siblings with cerebellar atrophy and extreme phenotypic variability. JIMD Rep 12:103–107

5. Crane FL, Sun IL, Sun EE (1993) The essential functions of coenzyme Q. Clin Investig 71:S55–S59

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