期刊
CLINICS IN PERINATOLOGY
卷 47, 期 1, 页码 123-+出版社
W B SAUNDERS CO-ELSEVIER INC
DOI: 10.1016/j.clp.2019.10.008
关键词
Mitochondria; External ophthalmoplegia; Pseudo-obstruction; Depletion
Mitochondrial disorders present in a myriad of ways, which causes them to be included in the differential diagnosis for many patients with undiagnosed disease. A subset of mitochondrial disorders are caused by intrinsic defects in the mitochondria! replication machinery, leading to loss of cellular mitochondrial content over time. The diagnosis of mitochondria! disease is complex. Several best-practice guides are available that enable a higher likelihood of detecting a mitochondrial disorder. The application of genomic sequencing and advanced physiologic analysis of the electron transport chain can offer more definitive evidence of mitochondrial dysfunction.
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