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Article

Mutation profile of neurodegenerative mitochondriopathy - LHON in Southern India.

Gene - 20 Apr 2022

Gowri Poigaialwar, Sathish Ponraj, Mahesh Kumar Shanmugam, Sundaresan Periasamy

Abstract excerpt

BACKGROUND: Leber's Hereditary Optic Neuropathy (LHON) is a rare mitochondriopathy causing retinal ganglion cell degeneration resulting in central vision loss. It is caused by mitochondrial DNA (mtDNA) mutations and thus follows maternal inheritance pattern. METHODS: We analysed the whole mitochondrial genome in 100 South Indian LHON patients by utilizing Sanger and Next Generation Sequencing approaches....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35104579
DOI: 10.1016/j.gene.2022.146202

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