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|Title:||Mitochondrial neurogastrointestinal encephalopathy (MNGIE) in a south Indian family with two affected siblings|
|Keywords:||Neurosciences & Neurology|
|Abstract:||We report a South Indian family in which two living members were affected by a progressive neurogastrointestinal disorder characterized by ophthalmoparesis, peripheral neuropathy, myopathy, leukoencephalopathy and gastrointestinal dysmotility. Evidence for mitochondrial dysfunction was provided by increased arterial blood lactate, and ragged red fibres in muscle biopsy, Our report is believed to be the first description of the autosomal recessively inherited multisystem mitochondrial disease, mitochondrial neurogastrointestinal encephalopathy (MNGIE), from India.|
|Appears in Collections:||Journal Articles|
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