Frequency of Primary LHON Mutations in Northern India
نویسندگان
چکیده
منابع مشابه
LHON: Mitochondrial Mutations and More
Leber's hereditary optic neuropathy (LHON) is a mitochondrial disorder leading to severe visual impairment or even blindness by death of retinal ganglion cells (RGCs). The primary cause of the disease is usually a mutation of the mitochondrial genome (mtDNA) causing a single amino acid exchange in one of the mtDNA-encoded subunits of NADH:ubiquinone oxidoreductase, the first complex of the elec...
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BACKGROUND Leber hereditary optic neuropathy (LHON) is one of the most common mitochondrial diseases, which is mainly caused by three mitochondrial DNA (mtDNA) mutations (m.3460G>A, m.11778G>A and m.14484T>C). Incomplete penetrance suggests that there might be asymptomatic carriers in general populations. These asymptomatic carriers are clinically important as they are potential future patients...
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ژورنال
عنوان ژورنال: Journal of Rare Disorders: Diagnosis & Therapy
سال: 2018
ISSN: 2380-7245
DOI: 10.21767/2380-7245.100178