Please use this identifier to cite or link to this item: http://dspace.sctimst.ac.in/jspui/handle/123456789/10067
Title: Mitochondrial neurogastrointestinal encephalopathy (MNGIE) in a south Indian family with two affected siblings
Authors: Santoshkumar, B
Shenoy, KT
Radhakrishnan, K
Radhakrishnan, VV
Keywords: Neurosciences & Neurology
Issue Date: 1997
Publisher: NEUROLOGY INDIA
Citation: 45 ,2;87-90
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.
URI: http://dspace.sctimst.ac.in/jspui/handle/123456789/10067
Appears in Collections:Journal Articles

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