has material basis in germline mutation in PNPLA8 inborn mitochondrial myopathy mitochondrial myopathy-lactic acidosis-deafness syndrome https://rarediseases.info.nih.gov/diseases/3682/mitochondrial-myopathy-with-lactic-acidosis https://www.malacards.org/card/mitochondrial_myopathy_with_lactic_acidosis Orphanet:2597 MEDGEN:343245 MMLA Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973. mitochondrial myopathy-lactic acidosis-hearing loss syndrome mitochondrial myopathy with lactic acidosis UMLS:C1855033 MONDO:0016825 GARD:0003682 OMIM:251950 metabolic myopathy associated with chronic lactic acidemia, growth failure, and nerve deafness MESH:C537476