Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency

Pyruvate dehydrogenase complex (PDC) deficiencies are mostly due to mutations in the X-linked PDHA1 gene. Males with hemizygous PDHA1 mutations are clinically more severely affected, while those with mosaic PDHA1 mutations may manifest milder phenotypes. We report a patient harboring a novel, mosaic...

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Detaylı Bibliyografya
Yayımlandı:Mol Genet Metab Rep
Asıl Yazarlar: Deeb, Kristin K., Bedoyan, Jirair K., Wang, Raymond, Sremba, Leighann, Schroeder, Molly C., Grahame, George J., Boyer, Monica, McCandless, Shawn E., Kerr, Douglas S., Zhang, Shulin
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Elsevier 2014
Konular:
Case Report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5121365/
https://ncbi.nlm.nih.gov/pubmed/27896109
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2014.08.001
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