3 research outputs found
The MNGIE Syndrome: DNA Analysis and Histopatholigical Characterization
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