Mitochondrial respiratory chain disorders in the Old Order Amish population
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- 作者：Lina Ghaloul-Gonzaleza ; lina.gonzalez@chp.edu" class="auth_mail" title="E-mail the corresponding author ; Amy Goldsteina ; Catherine Walsh Vockleya ; Steven F. Dobrowolskib ; Amy Bieryc ; Afifa Iranic ; Jordan Ibarrad ; D. Holmes Mortone ; Al-Walid Mohsena ; Jerry Vockleya ; c
- 关键词：HRM ; high-resolution melt profiling ; MELAS ; mitochondrial encephalomyopathy ; lactic acidosis ; and stroke-like episodes ; MERRF ; myoclonic epilepsy with ragged red fibers ; mtDNA ; mitochondrial DNA
- 刊名：Molecular Genetics and Metabolism
- 出版年：2016
- 出版时间：August 2016
- 年：2016
- 卷：118
- 期：4
- 页码：296-303
- 全文大小：1103 K
文摘
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Evidence of mitochondrial respiratory chain disorders in the Amish population.
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Characterization of the m.3243A > G mutation in extended family members of Amish patient.
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Mitochondrial respiratory chain deficiencies in the Amish are either due to nuclear or mitochondrial DNA mutations.