Resumo

ORTIZ GIRALDO, Blair et al. Genotype phenotype variation in mitochondrial neurogatrointestinal encephalopathy MNGIE because of a mutation without stop codon. Acta Neurol Colomb. [online]. 2014, vol.30, n.3, pp.205-209. ISSN 0120-8748.

Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is a genetic disease with onset from infancy and expressed with bowel obstruction, swallowing disorder, growth retardation, myopathy, peripheral neuropathy and cerebral leukoencephalopathy. The majority of cases are produced by a novo mutation and sometimes by an autosomic reccessive inheretance. MNGIE produced by c.1416 mutation has been associated with severe peripheral neuropathy. In the following report, we describe the onset disease, clinical features, biochemical data, cerebral magnetic resonance image, genetic test and literature review of a patient with MNGIE without inferior motoneuron disease and c.1416 mutation.

Palavras-chave : Mitochondrial; gastrointestinal; myopathy; encephalopathy; intellectual disability; neuropathy.

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