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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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121365/
https://www.ncbi.nlm.nih.gov/pubmed/27896109
http://dx.doi.org/10.1016/j.ymgmr.2014.08.001

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121365/
https://www.ncbi.nlm.nih.gov/pubmed/27896109
http://dx.doi.org/10.1016/j.ymgmr.2014.08.001

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