Disease

mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1

Definition

A mitochondrial complex V (ATP synthase) deficiency characterized by lactic acidemia, hypotonia, and neurodegenerative disease that has_material_basis_in mutation in mitochondrial gene MTATP6.

Synonyms

MC5DM1

Cross References

MIM:500015

Parent Terms

mitochondrial complex V (ATP synthase) deficiency

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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