Mitochondrial myopathy with lactic acidosis

Definition:

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.

References:

[1]. Carol J Saunders, et al. Loss of function variants in human PNPLA8 encoding calcium-independent phospholipase A2 γ recapitulate the mitochondriopathy of the homologous null mouse. Hum Mutat. 2015 Mar;36(3):301-6. [Content Brief]

[2]. T N Hackett Jr, et al. A metabolic myopathy associated with chronic lactic acidemia, growth failure, and nerve deafness. J Pediatr. 1973 Sep;83(3):426-31. [Content Brief]

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