It is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction in the number of mtDNA copies in the affected tissues, without the existence of mutations or rearrangements in the mtDNA. The syndrome is phenotypically heterogeneous and can affect a specific organ or a combination of organs, the main presentations described being: hepatocerebral (liver dysfunction, psychomotor retardation), myopathic (hypotonia, muscle weakness, bulbar weakness), encephalomyopathic (hypotonia, muscle weakness, psychomotor retardation) or neurogastrointestinal (gastrointestinal dysmotility, peripheral neuropathy). Additional phenotypes include fatal infantile lactic acidosis with methylmalonic aciduria, spastic ataxia (early-onset ataxia-spastic neuropathy syndrome), and Alpers syndrome.
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