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MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY (HML, ISCU)

MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY (HML, ISCU)
ISCU MYOPATHY; MYOPATHY WITH EXERCISE INTOLERANCE, SWEDISH TYPE
255125
OMIM = Online Mendelian Inheritance of Men
43115
Iron-sulfur cluster assembly enzyme ISCU, mitochondrial
12q23.3
G71.3
rare
autosomal recessive
mutation in the ISCU gene
Laboratory findings    Creatine kinase inc (serum)
    L-Lactic acid inc (serum)
    Myoglobin inc (urine)
    Pyruvic acid inc (serum)
Symptoms    cardiac involvement, cardiac defects
    cardiomyopathy
    defect of walking, running, rising or climbing
    dyspnea
    exercise intolerance
    lactic acidosis
    muscle cramps
    muscle weakness
    myopathy
    onset, childhood
    onset, infancy
    pain, muscle
    rhabdomyolysis