Mitochondrial DNA Depletion Syndromes.

Abstract:

: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 mitochondrial replication machinery, leading to loss of cellular mitochondrial content over time. The diagnosis of mitochondrial 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.

journal_name

Clin Perinatol

journal_title

Clinics in perinatology

authors

Basel D

doi

10.1016/j.clp.2019.10.008

subject

Has Abstract

pub_date

2020-03-01 00:00:00

pages

123-141

issue

1

eissn

0095-5108

issn

1557-9840

pii

S0095-5108(19)30138-1

journal_volume

47

pub_type

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