| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 10833482 | Molecular Genetics and Metabolism | 2012 | 9 Pages |
Abstract
⺠59 PDC-deficient subjects had 47 mutations of PDHA1 (53 cases), PDHB, and DLAT. ⺠No pathogenic mutations were found in 33 (36%) of PDC deficient subjects. ⺠Mortality was greatest in first 4 years and in males (56%) vs. females (25%). ⺠Female survivors had lower cognitive function and more brain malformations. ⺠Male survivors had higher frequency of Leigh syndrome.
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Authors
Suzanne D. DeBrosse, Kazuki Okajima, Shulin Zhang, Ghunwa Nakouzi, Christine L. Schmotzer, Marilyn Lusk-Kopp, Mary Beth Frohnapfel, George Grahame, Douglas S. Kerr,