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- B6369bfb1f6e5a66c1984f0caced2fccc hasDbXref "Orphanet:2597" @default.
- B6369bfb1f6e5a66c1984f0caced2fccc type Axiom @default.
- B6369bfb1f6e5a66c1984f0caced2fccc annotatedProperty IAO_0000115 @default.
- B6369bfb1f6e5a66c1984f0caced2fccc annotatedSource MONDO_0016825 @default.
- B6369bfb1f6e5a66c1984f0caced2fccc annotatedTarget "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." @default.