Table 3

b. Genetic Classification of Human Mitochondrial Disorders: Mitochondrial DNA Mutation

Mitochondrial DNA Mutations
Rearrangements (deletions and duplications)
Single nucleotide variants 1
tRNA genes 1
  • MELAS (m.3243A>G, m.3271T>C, m.3251A>G)
  • MERRF (m.8344A>G, m.8356T>C)
  • Chronic progressive external ophthalmoplegia (m.3243A>G, m.4274T>C)
  • Myopathy (m.14709T>C, m.12320A>G)
  • Cardiomyopathy (m.3243A>G, m.4269A>G)
  • Diabetes and deafness (m.3243A>G, m.12258C>A)
  • Encephalomyopathy (m.1606G>A, m.10010T>C)
rRNA genes 1
  • Aminoglycoside-induced nonsyndromic deafness (m.1555A>G)

For the genetic code, gene structure, and other features of the mitochondrial genome see MITOMAP: A Human Mitochondrial Genome Database. Variants are named according to current nomenclature guidelines (www​.hgvs.org). The reference sequence for the human mitochondrial DNA is NC_012920.1 (www​.mitomap.org).

1. Mitochondrial DNA nucleotide positions refer to the L-chain.

From: Mitochondrial Disorders Overview

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