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MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY (MEOAL)

MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY (MEOAL)
251900
OMIM = Online Mendelian Inheritance of Men
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Ferredoxin-2, mitochondrial
19p13.2
very rare
autosomal recessive
mutation in the FDX2 gene
Laboratory findings    3-Methylglutaconic acid inc (urine)
    Creatine kinase normal/inc (serum)
    L-Lactic acid inc (urine)
    L-Lactic acid inc (plasma)
    Myoglobin inc (urine)
Symptoms    anemia
    defect of walking, running, rising or climbing
    exercise intolerance
    hypothyroidism
    lactic acidosis
    learning disability
    leukoencephalopathy
    muscle cramps
    muscle weakness
    neuropathy
    nystagmus
    onset, childhood
    onset, infancy
    optic atrophy
    pain, muscle
    peripheral neuropathy
    ptosis (drooping eyelid)
    rhabdomyolysis