DISEASE: Mitochondrial myopathy with lactic acidosis
Entry
H02201 Disease
Name
Mitochondrial myopathy with lactic acidosis
Description
Mitochondrial myopathy with lactic acidosis is an autosomal recessive metabolic myopathy associated with chronic lactic acidemia, growth failure, and nerve deafness. It has been reported that loss of function mutations in PNPLA8 encoding calcium-independent phospholipase A2 gamma cause this disease.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Diseases of neuromuscular junction or muscle
Primary disorders of muscles
8C73 Mitochondrial myopathies
H02201 Mitochondrial myopathy with lactic acidosis
Saunders CJ, Moon SH, Liu X, Thiffault I, Coffman K, LePichon JB, Taboada E, Smith LD, Farrow EG, Miller N, Gibson M, Patterson M, Kingsmore SF, Gross RW
Title
Loss of function variants in human PNPLA8 encoding calcium-independent phospholipase A2 gamma recapitulate the mitochondriopathy of the homologous null mouse.
