mitochondrial myopathy-lactic acidosis-deafness syndrome
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.
MONDO:0009637
inborn mitochondrial myopathy
is_a
MMLA
related
metabolic myopathy associated with chronic lactic acidemia, growth failure, and nerve deafness
related
mitochondrial myopathy with lactic acidosis
exact
mitochondrial myopathy-lactic acidosis-hearing loss syndrome
exact