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MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14

MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14
616896
OMIM = Online Mendelian Inheritance of Men
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Dynamin-like 120 kDa protein, mitochondrial
3q29
very rare
mutation in the OPA1 gene
Laboratory findings    Alanine inc (plasma)
    L-Lactic acid normal/inc (cerebrospinal fluid)
    L-Lactic acid inc (blood)
Symptoms    apnea
    cardiomyopathy
    cardiomyopathy, hypertrophic
    early death
    encephalopathy
    failure to thrive
    hearing defect, deafness
    hypertonia, spasticity
    hypotonia
    muscle weakness
    onset, infancy
    onset, neonatal
    optic atrophy