The MNGIE Syndrome: DNA Analysis and Histopatholigical Characterization

Abstract

The myo-neuro-gastrointestinal encephalopathy (MNGIE) syndrome is a recently described multisystem mitochondriopathy with prominent ophthalmologic involvement characterized by ptosis and ophthalmoparesis (1). Systemic associations, including myopathy, polyneuropathy, leukoencephalopathy and severe pseudo-obstruction are also present. We describe the ophthalmologic features of the MNGIE syndrome and define the histopathological, biochemical and DNA analysis findings with special attention to its novel mitochondrial profile.MKmngiemela

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