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Mitochondrial Genome Screening Identified 26 Novel Variants in Children with Nonsyndromic Congenital Hearing Impairment

Vol 5, Issue 2 Pages 114–145 Published: 13 Apr 2022
Hema Bindu L1, Shehnaz Sultana1, Penagaluru Pardhanandana Reddy2, 3*
Article Information
Citation: Hema Bindu L, Shehnaz Sultana, Penagaluru Pardhanandana Reddy. Mitochondrial Genome Screening Identified 26 Novel Variants in Children with Nonsyndromic Congenital Hearing Impairment. Archives of Internal Medicine Research 5 (2022): 114-145.

DOI: 10.26502/aimr.0095

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Abstract
Background: Mitochondrial DNA (mtDNA) mutations may be responsible for the pathogenesis of maternally inherited hearing loss in both nonsyndromic and syndromic condition. Several mitochondrial genes, including genes coding for rRNA, tRNA, and respiratory chain complex subunits and protein coding genes play significant role in nonsyndromic deafness.
Keywords

Congenital; Nonsyndromic; Hearing Impairment; Mitochondrial Genome; Novel Variants

Congenital articles; Nonsyndromic articles; Hearing Impairment articles; Mitochondrial Genome articles; Novel Variants articles
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Article Details
  • Volume5
  • Issue2
  • Pages114–145
  • Published13 Apr 2022
  • ISSN2688-5654
  • DOI10.26502/aimr.0095
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Archives of Internal Medicine Research

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