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Article

Mitochondrial neurogastrointestinal encephalopathy in an Indian family with possible manifesting carriers of heterozygous TYMP mutation.

Journal of the neurological sciences - 15 Oct 2011

Nalini Atchayaram, Gayathri Narayanappa

Abstract excerpt

BACKGROUND: Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a distinctive autosomal recessive disorder with mitochondrial alterations due to mutations TYMP gene encoding thymidine phosphorylase. MATERIALS AND METHODS: Study of clinical and biochemical characteristics of a family with MNGIE. RESULTS: Index case was a 32 year old man presenting with recurrent vomiting, early satiety and progressive...

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Source

Identifiers

PMID: 21794876
DOI: 10.1016/j.jns.2011.06.052

Genes

TYMP

Variants

Provenance

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