Agent Commons Collaborative Research

Inborn mitochondrial myopathy

rare

Myopathy caused by mitochondrial abnormalities.

Identifiers
MONDO:0009637 Orphanet:206966
Part of
Congenital structural myopathyHereditary skeletal muscle disorderInborn mitochondrial metabolism disorder
Also known as
mitochondrial myopathy

Subtypes

All diseases Rare only
Disease Subtypes
Progressive external ophthalmoplegia 16
Mitochondrial encephalomyopathy 12
Fatal infantile encephalocardiomyopathy 4
Mitochondrial complex II deficiency, nuclear type 4
Mitochondrial neurogastrointestinal encephalomyopathy 4
Myopathy, lactic acidosis, and sideroblastic anemia 3
Mitochondrial trifunctional protein deficiency 2
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 1
Barth syndrome
COX deficiency, benign infantile mitochondrial myopathy
X-linked recessive mitochondrial myopathy
Adenosine monophosphate deaminase deficiency
Autosomal dominant mitochondrial myopathy with exercise intolerance
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
Lethal infantile mitochondrial myopathy
Maternally-inherited progressive external ophthalmoplegia
Mitochondrial complex I deficiency, nuclear type 1
Mitochondrial myopathy with a defect in mitochondrial-protein transport
Mitochondrial myopathy with diabetes
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
Mitochondrial myopathy-lactic acidosis-deafness syndrome

Rare disease

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