Table 2. [Classification of Representative nDNA Mitochondrial Disorders]. - GeneReviews®

Genetic Cause	Disorders
nDNA disorders of the mt respiratory chain	nDNA genes encoding structural subunits ¹	Leigh syndrome w/complex I deficiency Leigh syndrome w/complex II deficiency Leukodystrophy w/complex II deficiency Cardiomyopathy & encephalopathy (complex I deficiency) Optic atrophy & ataxia (complex II deficiency) Hypokalemia & lactic acidosis (complex III deficiency)
nDNA genes encoding assembly factors ¹	Leigh syndrome Hepatopathy & ketoacidosis Cardiomyopathy & encephalopathy Leukodystrophy & renal tubulopathy Hypertrophic cardiomyopathy Encephalopathy, liver failure, renal tubulopathy (w/complex III deficiency) Encephalopathy (w/complex V deficiency)
nDNA genes encoding translation factors ¹	Leigh syndrome, liver failure, & lactic acidosis Lactic acidosis, developmental failure, & dysmorphism Myopathy & sideroblastic anemia Leukodystrophy & polymicrogyria Leigh syndrome & optic atrophy w/COX deficiency
nDNA disorders assoc w/multiple mtDNA deletions or mtDNA depletion	Autosomal progressive external ophthalmoplegia Mitochondrial neurogastrointestinal encephalomyopathy Alpers-Huttenlocher syndrome Ataxia neuropathy syndromes ² Infantile myopathy / spinal muscular atrophy Encephalomyopathy & liver failure Hypotonia, movement disorder, &/or Leigh syndrome w/methylmalonic aciduria Hypotonia, encephalopathy, renal tubulopathy, lactic acidosis Mitochondrial encephalomyopathy w/combined RC deficiency Reversible hepatopathy Myopathy w/cataract & combined RC deficiency
Disorders of the mt membrane	Coenzyme Q₁₀ deficiency Barth syndrome Cardiomyopathy & lactic acidosis (mitochondrial phosphate carrier deficiency)

Genetic Cause

Disorders

nDNA
disorders
of the mt
respiratory
chain

nDNA genes encoding structural subunits ¹

Leigh syndrome w/complex I deficiency
Leigh syndrome w/complex II deficiency
Leukodystrophy w/complex II deficiency
Cardiomyopathy & encephalopathy (complex I deficiency)
Optic atrophy & ataxia (complex II deficiency)
Hypokalemia & lactic acidosis (complex III deficiency)

nDNA genes encoding assembly factors ¹

Leigh syndrome
Hepatopathy & ketoacidosis
Cardiomyopathy & encephalopathy
Leukodystrophy & renal tubulopathy
Hypertrophic cardiomyopathy
Encephalopathy, liver failure, renal tubulopathy (w/complex III deficiency)
Encephalopathy (w/complex V deficiency)

nDNA genes encoding translation factors ¹

Leigh syndrome, liver failure, & lactic acidosis
Lactic acidosis, developmental failure, & dysmorphism
Myopathy & sideroblastic anemia
Leukodystrophy & polymicrogyria
Leigh syndrome & optic atrophy w/COX deficiency

nDNA disorders assoc w/multiple mtDNA deletions or mtDNA depletion

Autosomal progressive external ophthalmoplegia
Mitochondrial neurogastrointestinal encephalomyopathy
Alpers-Huttenlocher syndrome
Ataxia neuropathy syndromes ²
Infantile myopathy / spinal muscular atrophy
Encephalomyopathy & liver failure
Hypotonia, movement disorder, &/or Leigh syndrome w/methylmalonic aciduria
Hypotonia, encephalopathy, renal tubulopathy, lactic acidosis
Mitochondrial encephalomyopathy w/combined RC deficiency
Reversible hepatopathy
Myopathy w/cataract & combined RC deficiency

Disorders of the
mt membrane

Coenzyme Q₁₀ deficiency
Barth syndrome
Cardiomyopathy & lactic acidosis (mitochondrial phosphate carrier deficiency)

From: Primary Mitochondrial Disorders Overview

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

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