Mitochondrial myopathy with lactic acidosis
Definition:
References:
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[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]